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).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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)
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.
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)
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.
Variantes genéticas (ClinVar)
351 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 88 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
28 ensaios clínicos encontrados.
Publicações mais relevantes
m6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.
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.
Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.
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.
Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.
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.
Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
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.
HbA1c levels in hemoglobin H disease.
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
Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
m(6)A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.
Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.
HbA1c levels in hemoglobin H disease.
Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.
📚 EuropePMC193 artigos no totalmostrando 98
Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
International journal of general medicinem6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.
CellsMatrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.
Analytical science advancesHbA1c levels in hemoglobin H disease.
Biochemistry and biophysics reportsFactors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.
Annals of hematologyEnhancing thalassemia carrier detection: Advancing genetic screening strategies in prenatal care.
Journal of the Formosan Medical Association = Taiwan yi zhiCognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.
Frontiers in geneticsEvaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.
Annals of hematologyUnraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.
Hematology, transfusion and cell therapyThalassemias and Sickle Cell Diseases in Pregnancy: SITE Good Practice.
Journal of clinical medicineAn 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 hematologyErythrocytapheresis as a strategy to manage anemia and iron overload in nondeletional hemoglobin H disease.
EJHaemInvestigation of the Influence of Deletional and Non-Deletional Hemoglobin H Disease on Pregnancy Outcomes.
International journal of women's healthFirst Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (HBA2 c.244delT) in a Chinese Family.
HemoglobinHealth-Related Quality of Life of Adolescents With Non-transfusion-Dependent Thalassemia in Basrah, Iraq.
CureusLeveraging Multi-Omics Approaches and Advanced Technologies to Unravel the Molecular Complexities, Modifiers, and Precision Medicine Strategies for Hemoglobin H Disease.
European journal of haematologyPrenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.
Diagnosis (Berlin, Germany)Luspatercept for non-deletional hemoglobin H disease.
Pediatric blood & cancerDisease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease.
American journal of hematologyA Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.
Mediterranean journal of hematology and infectious diseasesA 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 chemistryCoinheritance of non-deletional hemoglobin H disease with sickle cell trait.
EJHaem[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Zhongguo shi yan xue ye xue za zhiProtein S Deficiency with Recurrent Thromboembolism after Splenectomy in a Patient with Hemoglobin H Disease.
Mediterranean journal of hematology and infectious diseases[Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong].
Zhongguo shi yan xue ye xue za zhiHemoglobin H Disease and Growth: A Comparative Study of DHbH and NDHbH Patients.
Mediterranean journal of hematology and infectious diseasesQuantitative evaluation of the clinical severity of hemoglobin H disease in a cohort of 591 patients using a scoring system based on regression analysis.
HaematologicaAnalysis of Hematological Indices and Splenectomy Rates in 2,130 Patients with Hemoglobin H Diseases or β-Thalassemia.
Acta haematologicaDetecting rare thalassemia in children with anemia using third-generation sequencing.
Hematology (Amsterdam, Netherlands)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)Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
American journal of hematologyMolecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations.
HemoglobinBone 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 DensitometryThe Clinical Phenotypes of Alpha Thalassemia.
Hematology/oncology clinics of North AmericaAnalysis of the anemia characteristics in early pregnancy and outcomes of pregnant women with hemoglobin H disease.
European review for medical and pharmacological sciencesAlpha-Hemoglobin Stabilizing Protein Gene Polymorphism (rs4499252 A/G) and its Association with Beta-Thalassemia Major in Iraqi Patients.
Archives of Razi Institute[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 geneticsDeepThal: A Deep Learning-Based Framework for the Large-Scale Prediction of the α+-Thalassemia Trait Using Red Blood Cell Parameters.
Journal of clinical medicineIncidence of cancer and related deaths in hemoglobinopathies: A follow-up of 4631 patients between 1970 and 2021.
CancerNon-Transfusion-Dependent Thalassemia: A Panoramic Review.
Medicina (Kaunas, Lithuania)Detection of hemoglobin H disease by long molecule sequencing.
Journal of clinical laboratory analysis[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 zhiIron overload status in patients with non-transfusion-dependent thalassemia in China.
Therapeutic advances in hematology[Regulation effect of siRNA on β-globin in erythrocytes of hemoglobin H disease].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiDengue-Induced Hemophagocytic Lymphohistiocytosis: A Case Report and Literature Review.
CureusClinical and genetic characteristics of hemoglobin H disease in Iran.
Pediatric hematology and oncologyGenotypes of thalassemia in children: an analysis of 30 417 cases.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsApplication of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
International journal of laboratory hematologyPrenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.
Journal of clinical laboratory analysisGenetic 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 & gynecologyReview article inferior vena cava thrombosis: a case series of patients observed in Taiwan and literature review.
Thrombosis journalTelomere shortening correlates with disease severity in hemoglobin H disease patients.
Blood cells, molecules & diseasesAssociation of hemoglobin H (HbH) disease with hemoglobin A1c and glycated albumin in diabetic and non-diabetic patients.
Clinical chemistry and laboratory medicine[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 geneticsEF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia.
Case reports in hematologyAlpha thalassemia genotypes in Kuwait.
BMC medical geneticsIron 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 oncologyAnalysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.
Expert review of hematologyMolecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in Thailand.
Scandinavian journal of clinical and laboratory investigationGene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.
Frontiers in pediatricsEarly development of decreased β-cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia.
Pediatric blood & cancerA combination of the (αα)GZ and --SEA deletions causing a severe form of hemoglobin H disease.
International journal of laboratory hematology[Serum level of soluble transferrin receptor in children with hemoglobin H disease].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsIranian patients with hemoglobin H disease: genotype-phenotype correlation.
Molecular biology reportsPregnancy in Thalassemia.
Mediterranean journal of hematology and infectious diseasesA Phenotypically Unusual Hemoglobin H Disease Resulting from a Rare α-Globin Genotype (-SEA/-α27.6).
Annals of clinical and laboratory scienceClinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan.
Laboratory medicineUnusual inclusions in hemoglobin H disease post-splenectomy.
American journal of hematologyElevations of Thrombotic Biomarkers in Hemoglobin H Disease.
Acta haematologicaA 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 haematologicaIt's Complicated: Parvovirus B19 in Thalassemia.
The American journal of medicineObstetric care for women with thalassemia.
Best practice & research. Clinical obstetrics & gynaecologyA molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.
Annals of hematologyA combination of the -α3.7 and --MEDII alleles causing hemoglobin H disease in a Brazilian patient.
Revista brasileira de hematologia e hemoterapiaMolecular diagnosis of α-thalassemia in a multiethnic population.
European journal of haematologyCoinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.
Journal of pediatric hematology/oncologyPregnancies Complicated by Hemoglobin H disease.
Iranian journal of pathologyContinuous Qualitative Electroencephalography as a Noninvasive Neuromonitor.
The Neurohospitalist[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 UniversityA Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor.
HemoglobinThalassemia Syndromes in Pregnancy.
Nursing for women's health[Prenatal diagnosis of Thailand deletion of α-thalassemia 1 families].
Zhonghua yi xue za zhiAnalysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report.
Biomedical reportsEvaluation of bone mineral density in patients with hemoglobin H disease.
Annals of hematology[Genotype of Patients with α and β Thalassemia in Northern Area of Fujian Province in China].
Zhongguo shi yan xue ye xue za zhiTwo novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.
Molecular genetics and genomics : MGGBenign Cardiac Effects of Hemoglobin H Disease.
Acta haematologicaMultiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
American journal of medical genetics. Part AVitamin B12 Deficiency and Hemoglobin H Disease Early Misdiagnosed as Thrombotic Thrombocytopenic Purpura: A Series of Unfortunate Events.
Case reports in hematologyAcute Non-Atherosclerotic ST-Segment Elevation Myocardial Infarction in an Adolescent with Concurrent Hemoglobin H-Constant Spring Disease and Polycythemia Vera.
Hematology reportsNon-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management.
Current medical research and opinionHemoglobin H Disease in Turkey: Experience from Eight Centers.
Turkish journal of haematology : official journal of Turkish Society of HaematologyNon-transfusion Dependent Thalassemias: A Developing Country Perspective.
Current pediatric reviewsRapid 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 hematologyHemoglobin H identification by high-performance liquid chromatography in confirmed hemoglobin H disease.
International journal of laboratory hematologyHemoglobin Constant Spring exhibits prolonged ex vivo stability when assessed by HPLC.
Clinical biochemistryImplementation of newborn screening for hemoglobin h disease in mainland china.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionDifferences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia.
HaematologicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- m6A mRNA Methylation in Hematopoiesis: The Importance of Writing, Erasing, and Reading.
- Matrix-assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β-Chain Changes From Human Hemoglobin: An Exploratory Study.
- Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.
- Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.
- HbA1c levels in hemoglobin H disease.
- Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93616(Orphanet)
- OMIM OMIM:613978(OMIM)
- MONDO:0013512(MONDO)
- GARD:16829(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
