Raras
Buscar doenças, sintomas, genes...
Doença da hemoglobina H
ORPHA:93616CID-10 · D56.0CID-11 · 3A50.02OMIM 613978DOENÇA RARA

Talassemia alfa causada por variação em três das quatro cópias dos genes da hemoglobina alfa (por exemplo, grande deleção nos genes HBA1 e HBA2 em trans com uma variante em HBA1 ou HBA2).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Talassemia alfa causada por variação em três das quatro cópias dos genes da hemoglobina alfa (por exemplo, grande deleção nos genes HBA1 e HBA2 em trans com uma variante em HBA1 ou HBA2).

Publicações científicas
314 artigos
Último publicado: 2025

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.1
United States
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: D56.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (1)
0202010317
Eletroforese de hemoglobinaslab_test
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
2 sintomas
🩸
Sangue
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

Razão de síntese alfa/beta reduzida
Anemia hemolítica
Hemoglobina HbH
Esplenomegalia
Hepatomegalia
5sintomas
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Razão de síntese alfa/beta reduzidaReduced alpha/beta synthesis ratio
Anemia hemolíticaHemolytic anemia
Hemoglobina HbHHbH hemoglobin
EsplenomegaliaSplenomegaly
HepatomegaliaHepatomegaly

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3desde 2023
Total histórico314PubMed
Últimos 10 anos99publicações
Pico202515 papers
Linha do tempo
2023Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

HBA2Hemoglobin subunit alphaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Scavenging of heme from plasma
MECANISMO DE DOENÇA

Heinz body anemias

Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
80863.6 TPM
Baço
944.8 TPM
Pulmão
456.9 TPM
Rim - Medula
268.9 TPM
Adipose Visceral Omentum
211.0 TPM
OUTRAS DOENÇAS (8)
Heinz body anemiahemoglobin H diseaseerythrocytosis, familial, 7alpha thalassemia spectrum
HGNC:4824UniProt:P69905
HBA1Hemoglobin subunit alphaDisease-causing germline mutation(s) inModerado
FUNÇÃO

Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Scavenging of heme from plasma
MECANISMO DE DOENÇA

Heinz body anemias

Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
15499.1 TPM
Baço
90.5 TPM
Pulmão
37.3 TPM
Rim - Medula
20.0 TPM
Rim - Córtex
18.1 TPM
OUTRAS DOENÇAS (9)
alpha thalassemia spectrumhemoglobin H diseaseerythrocytosis, familial, 7Heinz body anemia
HGNC:4823UniProt:P69905

Variantes genéticas (ClinVar)

351 variantes patogênicas registradas no ClinVar.

🧬 HBA1: NM_000558.5(HBA1):c.247_254delinsTGCA (p.Ala83fs) ()
🧬 HBA1: NM_000558.5(HBA1):c.287del (p.Pro96fs) ()
🧬 HBA1: NM_000558.5(HBA1):c.3G>A (p.Met1Ile) ()
🧬 HBA1: NM_000558.5(HBA1):c.349G>T (p.Glu117Ter) ()
🧬 HBA1: NM_000558.3(HBA1):c.*115dup ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 88 variantes classificadas pelo ClinVar.

65
23
Patogênica (73.9%)
VUS (26.1%)
VARIANTES MAIS SIGNIFICATIVAS
ATRX: NM_000489.6(ATRX):c.798C>G (p.Tyr266Ter) [Likely pathogenic]
ATRX: NM_000489.6(ATRX):c.3010A>T (p.Lys1004Ter) [Likely pathogenic]
ATRX: NM_000489.6(ATRX):c.7096G>T (p.Glu2366Ter) [Likely pathogenic]
LOC106804613: NM_000558.5(HBA1):c.184A>T (p.Lys62Ter) [Likely pathogenic]
HBA1: NM_000558.5(HBA1):c.95+2T>C [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença da hemoglobina H

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

28 ensaios clínicos encontrados.

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Publicações mais relevantes

Timeline de publicações
100 papers (10 anos)
#1

m6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.

Cells2025 Sep 05

Over recent years, epitranscriptomic research has provided a new layer of gene regulation during hematopoietic development and aberrant hematopoiesis. Among the 170 identified RNA chemical marks, N6-methyladenosine (m6A) is the most abundant in eukaryotic cells and plays a critical role in various biological processes. This dynamic modification is regulated by a series of methyltransferases, demethylases, and m6A binding proteins, known as writers, erasers, and readers, respectively. Emerging evidence suggests that m6A modification and its regulators are involved in every aspect of normal hematopoietic development, from the emergence of hematopoietic stem cells to the generation of mature blood cells. Also, it has been established that abnormal expression of m6A regulators is implicated in the initiation of blood diseases. In this review, we summarize the latest findings regarding the role of m6A in erythropoiesis and highlight its implications in the pathophysiology of hemoglobin disorders.

#2

Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.

Analytical science advances2025 Dec

In this work, we developed a matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) method to directly analyze human whole blood samples. 1.0 µL of whole blood samples and 1.0 µL of optimized organic matrix were directly loaded onto the sample plates for MALDI-TOF-MS detection. A total of 59 whole blood samples were investigated in this work, including 23 healthy control samples, 28 α-globin gene triplication carriers with α-chain repetition, and eight deletional hemoglobin H disease (HbH) patients with α-chain deficiency. Human hemoglobin (Hb) chains with high signal-to-noise were directly observed. It is found that there is a change in signal ratios of α/β-chains of Hb from blood samples in thalassemia subtypes by comparing the ratios obtained from healthy blood samples. Analytical variability (n = 6) of signal ratios of α/β-chains was found to be 3.33%-12.86% (intra-day), 4.02%-13.39% (inter-day), and 6.41%-15.32% (inter-laboratory), respectively. Furthermore, the results were validated using different MALDI-TOF MS approaches. Our results suggest that α/β-chains ratios of Hb could be an indicator for investigating thalassemia by MALDI-TOF-MS.

#3

Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.

Hematology, transfusion and cell therapy2025

To elucidate the molecular basis, hematological features, and electrophoretic and chromatographic mobility behavior of an unstable α2-globin chain variant, and to describe the diagnostic approach. A Thai patient with unexplained chronic anemia and her daughter were investigated. Hematological data were analyzed using a standard automated cell counter. Hemoglobin was analyzed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational analysis was performed using appropriate polymerase chain reaction (PCR) techniques and direct sequencing. Additionally, α-globin haplotype analysis was conducted. Simple and rapid diagnostic methods were developed. Hemoglobin analysis in the patient revealed anomalous peaks separated from normal hemoglobin visible using the HPLC technique. These peaks were virtually absent in the daughter. DNA analysis identified a G to C mutation at codon 14 of the α2-globin gene responsible for hemoglobin Jax in trans to the α0-thalassemia gene in the patient. Heterozygosity of this mutation was identified in her daughter. Hematological analysis showed mild thalassemia-like changes in simple heterozygotes and exhibited a hemoglobin H-like phenotype when combined with α0-thalassemia. Isopropanol stability testing and bioinformatic software indicated that the variant was unstable and potentially damaging. This mutation was confirmed using allele-specific PCR. Hemoglobin Jax was strongly associated with the haplotype [+ - S + - + -]. Hemoglobin Jax, a pathological α-globin variant, is asymptomatic in simple heterozygotes and demonstrates more pronounced clinical effects when associated with deletional α-thalassemia. This knowledge can help develop strategies to prevent hemoglobinopathies in regions of high prevalence. Accurate identification requires DNA level analysis.

#4

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.

International journal of general medicine2025

Hemoglobin H (Hb H) disease is a common type of α-thalassemia, characterized by anemia caused by abnormal hemoglobin synthesis, and its hematological phenotype show significant heterogeneity. The purpose is to explore the relationship between genotypes and hematological parameters in Hb H disease, in order to provide scientific basis for the prevention and treatment of Hb H disease. A total of 497 Hb H disease patients at Meizhou People's Hospital from December 2016 to December 2023, were retrospectively analyzed. Genotype testing was performed to determine the types of α-thalassemia and β-thalassemia. The hemoglobin, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and hemoglobin electrophoresis results of the patients were collected to evaluate their hematological manifestations. The relationship between genotypes and hematological manifestations was analyzed. There were 449 (90.3%) cases with deletional Hb H disease and 48 (9.7%) with non-deletional Hb H disease. The detection rate of Hb H was higher in patients with non-deletional Hb H disease than in those with deletional Hb H disease (73.8% vs 66.8%). The proportion of severe anemia in patients with Hb H disease combined with β-thalassemia was lower than that of patients with isolated Hb H disease (11.1% vs 26.9%). Non-deletional Hb H disease exhibited more severe anemia compared to those with deletional Hb H disease (low Hb, p=0.002), accompanied by significantly higher MCV (p<0.001) and MCH (p=0.001). The degree of microcytosis and hypochromia in Hb H disease patients without β-thalassemia is less severe than that in patients with β-thalassemia. Non-deletional Hb H disease exhibited higher detection rate of Hb H and proportion of severe anemia, and patients with --SEA/αCSα have the highest proportion of severe anemia. There are differences in the genotypes distribution of Hb H disease among different populations.

#5

HbA1c levels in hemoglobin H disease.

Biochemistry and biophysics reports2025 Sep

Patients with beta-thalassemia have been shown to exhibit lower HbA1c levels, often correlating with reduced hemoglobin (Hb) concentrations. Similarly, individual with alpha-thalassemia, particularly those with hemoglobin H (HbH) disease, experience chronic hemolytic anemia, which may also influence HbA1c measurements. This study aimed to investigate the effect of alpha-thalassemia on HbA1c levels. This cross-sectional study was conducted between September 2022 and April 2024 at the Tertiary care University Hospital. Non-diabetic patients with alpha-thalassemia (hemoglobin H disease) were enrolled and compared with age- and sex-matched control without thalassemia. Statistical analysis was performed using independent t-tests based on distribution of data. Linear regression analysis was used to assess the association between HbH disease and HbA1c levels. A total of 92 participants were enrolled, comprising 46 patients with HbH disease and 46 matched controls. The mean ± SD HbA1c levels were significantly lower in the HbH group (4.09 ± 0.64 %) compared to the control group (5.39 ± 0.50 %) (P < 0.001). The mean difference in HbA1c levels between the two groups was -1.31 ± 0.12 % [95 % CI -1.54 to -1.07](P < 0.001). Patients with HbH exhibit significantly lower HbA1c levels compared to control group. These finding highlight the need to establish specific HbA1c reference ranges for patients with thalassemia to avoid misinterpretation in the diagnosis and management of diabetes mellitus.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC193 artigos no totalmostrando 98

2025

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.

International journal of general medicine
2025

m6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.

Cells
2025

Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.

Analytical science advances
2025

HbA1c levels in hemoglobin H disease.

Biochemistry and biophysics reports
2025

Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.

Annals of hematology
2025

Enhancing thalassemia carrier detection: Advancing genetic screening strategies in prenatal care.

Journal of the Formosan Medical Association = Taiwan yi zhi
2025

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.

Frontiers in genetics
2025

Evaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.

Annals of hematology
2025

Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.

Hematology, transfusion and cell therapy
2025

Thalassemias and Sickle Cell Diseases in Pregnancy: SITE Good Practice.

Journal of clinical medicine
2025

An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.

Annals of hematology
2025

Erythrocytapheresis as a strategy to manage anemia and iron overload in nondeletional hemoglobin H disease.

EJHaem
2025

Investigation of the Influence of Deletional and Non-Deletional Hemoglobin H Disease on Pregnancy Outcomes.

International journal of women's health
2025

First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (HBA2 c.244delT) in a Chinese Family.

Hemoglobin
2024

Health-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.

Cureus
2024

Leveraging Multi-Omics Approaches and Advanced Technologies to Unravel the Molecular Complexities, Modifiers, and Precision Medicine Strategies for Hemoglobin H Disease.

European journal of haematology
2025

Prenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.

Diagnosis (Berlin, Germany)
2024

Luspatercept for non-deletional hemoglobin H disease.

Pediatric blood &amp; cancer
2024

Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease.

American journal of hematology
2024

A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.

Mediterranean journal of hematology and infectious diseases
2024

A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation.

Clinica chimica acta; international journal of clinical chemistry
2024

Coinheritance of non-deletional hemoglobin H disease with sickle cell trait.

EJHaem
2024

[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].

Zhongguo shi yan xue ye xue za zhi
2024

Protein S Deficiency with Recurrent Thromboembolism after Splenectomy in a Patient with Hemoglobin H Disease.

Mediterranean journal of hematology and infectious diseases
2023

[Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong].

Zhongguo shi yan xue ye xue za zhi
2023

Hemoglobin H Disease and Growth: A Comparative Study of DHbH and NDHbH Patients.

Mediterranean journal of hematology and infectious diseases
2024

Quantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.

Haematologica
2023

Analysis of Hematological Indices and Splenectomy Rates in 2,130 Patients with Hemoglobin H Diseases or β-Thalassemia.

Acta haematologica
2023

Detecting rare thalassemia in children with anemia using third-generation sequencing.

Hematology (Amsterdam, Netherlands)
2023

Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.

Journal of molecular medicine (Berlin, Germany)
2023

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.

American journal of hematology
2023

Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations.

Hemoglobin
2023

Bone Mineral Density and Dickkopf-1 in Adolescents with Non-Deletional Hemoglobin H Disease.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2023

The Clinical Phenotypes of Alpha Thalassemia.

Hematology/oncology clinics of North America
2023

Analysis of the anemia characteristics in early pregnancy and outcomes of pregnant women with hemoglobin H disease.

European review for medical and pharmacological sciences
2022

Alpha-Hemoglobin Stabilizing Protein Gene Polymorphism (rs4499252 A/G) and its Association with Beta-Thalassemia Major in Iraqi Patients.

Archives of Razi Institute
2022

[Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--SEA/α90-92(AGCTTCGG)α]].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

DeepThal: A Deep Learning-Based Framework for the Large-Scale Prediction of the α+-Thalassemia Trait Using Red Blood Cell Parameters.

Journal of clinical medicine
2023

Incidence of cancer and related deaths in hemoglobinopathies: A follow-up of 4631 patients between 1970 and 2021.

Cancer
2022

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.

Medicina (Kaunas, Lithuania)
2022

Detection of hemoglobin H disease by long molecule sequencing.

Journal of clinical laboratory analysis
2022

[Thalassemia Gene Detection Results and Application Value of Hematological Indexes Among Pregnant Women in Xindu District of Chengdu City].

Zhongguo shi yan xue ye xue za zhi
2022

Iron overload status in patients with non-transfusion-dependent thalassemia in China.

Therapeutic advances in hematology
2021

[Regulation effect of siRNA on β-globin in erythrocytes of hemoglobin H disease].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2021

Dengue-Induced Hemophagocytic Lymphohistiocytosis: A Case Report and Literature Review.

Cureus
2022

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Pediatric hematology and oncology
2021

Genotypes of thalassemia in children: an analysis of 30 417 cases.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2022

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.

International journal of laboratory hematology
2021

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.

Journal of clinical laboratory analysis
2021

Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.

Taiwanese journal of obstetrics &amp; gynecology
2021

Review article inferior vena cava thrombosis: a case series of patients observed in Taiwan and literature review.

Thrombosis journal
2021

Telomere shortening correlates with disease severity in hemoglobin H disease patients.

Blood cells, molecules &amp; diseases
2021

Association of hemoglobin H (HbH) disease with hemoglobin A1c and glycated albumin in diabetic and non-diabetic patients.

Clinical chemistry and laboratory medicine
2020

[Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia.

Case reports in hematology
2020

Alpha thalassemia genotypes in Kuwait.

BMC medical genetics
2020

Iron Overload in a Patient with Non-Transfusion-Dependent Hemoglobin H Disease and Borderline Serum Ferritin: Can We Rely on Serum Ferritin for Monitoring in This Group of Patients?

Case reports in oncology
2020

Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.

Expert review of hematology
2020

Molecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in Thailand.

Scandinavian journal of clinical and laboratory investigation
2020

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.

Frontiers in pediatrics
2020

Early development of decreased β-cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia.

Pediatric blood &amp; cancer
2020

A combination of the (αα)GZ and --SEA deletions causing a severe form of hemoglobin H disease.

International journal of laboratory hematology
2019

[Serum level of soluble transferrin receptor in children with hemoglobin H disease].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2019

Iranian patients with hemoglobin H disease: genotype-phenotype correlation.

Molecular biology reports
2019

Pregnancy in Thalassemia.

Mediterranean journal of hematology and infectious diseases
2018

A Phenotypically Unusual Hemoglobin H Disease Resulting from a Rare α-Globin Genotype (-SEA/-α27.6).

Annals of clinical and laboratory science
2019

Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan.

Laboratory medicine
2018

Unusual inclusions in hemoglobin H disease post-splenectomy.

American journal of hematology
2018

Elevations of Thrombotic Biomarkers in Hemoglobin H Disease.

Acta haematologica
2017

A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia.

Acta haematologica
2017

It's Complicated: Parvovirus B19 in Thalassemia.

The American journal of medicine
2017

Obstetric care for women with thalassemia.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2017

A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.

Annals of hematology
2017

A combination of the -α3.7 and --MEDII alleles causing hemoglobin H disease in a Brazilian patient.

Revista brasileira de hematologia e hemoterapia
2017

Molecular diagnosis of α-thalassemia in a multiethnic population.

European journal of haematology
2017

Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.

Journal of pediatric hematology/oncology
2016

Pregnancies Complicated by Hemoglobin H disease.

Iranian journal of pathology
2016

Continuous Qualitative Electroencephalography as a Noninvasive Neuromonitor.

The Neurohospitalist
2016

[Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University
2016

A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor.

Hemoglobin
2016

Thalassemia Syndromes in Pregnancy.

Nursing for women's health
2016

[Prenatal diagnosis of Thailand deletion of α-thalassemia 1 families].

Zhonghua yi xue za zhi
2016

Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report.

Biomedical reports
2016

Evaluation of bone mineral density in patients with hemoglobin H disease.

Annals of hematology
2016

[Genotype of Patients with α and β Thalassemia in Northern Area of Fujian Province in China].

Zhongguo shi yan xue ye xue za zhi
2016

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.

Molecular genetics and genomics : MGG
2016

Benign Cardiac Effects of Hemoglobin H Disease.

Acta haematologica
2016

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.

American journal of medical genetics. Part A
2015

Vitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events.

Case reports in hematology
2015

Acute Non-Atherosclerotic ST-Segment Elevation Myocardial Infarction in an Adolescent with Concurrent Hemoglobin H-Constant Spring Disease and Polycythemia Vera.

Hematology reports
2016

Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management.

Current medical research and opinion
2016

Hemoglobin H Disease in Turkey: Experience from Eight Centers.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2015

Non-transfusion Dependent Thalassemias: A Developing Country Perspective.

Current pediatric reviews
2015

Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay.

American journal of hematology
2015

Hemoglobin H identification by high-performance liquid chromatography in confirmed hemoglobin H disease.

International journal of laboratory hematology
2015

Hemoglobin Constant Spring exhibits prolonged ex vivo stability when assessed by HPLC.

Clinical biochemistry
2015

Implementation of newborn screening for hemoglobin h disease in mainland china.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2015

Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia.

Haematologica
Ver todos os 193 no EuropePMC

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. m6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.
    Cells· 2025· PMID 40940799mais citado
  2. Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of &#x3b1;/&#x3b2;-Chain Changes From Human Hemoglobin: An Exploratory Study.
    Analytical science advances· 2025· PMID 40809835mais citado
  3. Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G&gt;C] and deletional &#x3b1;0-thalassemia interaction phenotype.
    Hematology, transfusion and cell therapy· 2025· PMID 39956031mais citado
  4. Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
    International journal of general medicine· 2025· PMID 41424969mais citado
  5. HbA1c levels in hemoglobin H disease.
    Biochemistry and biophysics reports· 2025· PMID 40727440mais citado
  6. Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.
    Ann Hematol· 2025· PMID 40690015recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:93616(Orphanet)
  2. OMIM OMIM:613978(OMIM)
  3. MONDO:0013512(MONDO)
  4. GARD:16829(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q3144945(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença da hemoglobina H
Compêndio · Raras BR

Doença da hemoglobina H

ORPHA:93616 · MONDO:0013512
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
D56.0 · Talassemia alfa
CID-11
Início
All ages
Prevalência
0.1 (United States)
MedGen
UMLS
C3161174
EuropePMC
Wikidata
Papers 10a
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