Hemoglobin h disease

Preferred Label : Hemoglobin h disease;

Symbol : HBH;

CISMeF acronym : HBH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alpha-thalassemia, hemoglobin h type; Hemoglobin h disease, deletional;

Included titles and symbols : Hemoglobin h disease, nondeletional;

Description : Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha( )-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003). Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha( )-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha( )-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011). While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see 236750.;

Prefixed ID : #613978;

Details

Origin ID

613978;

UMLS CUI

C3161174;

Automatic exact mappings (from CISMeF team)
- HBA1 wt Allele [NCIt concept]
- HBA2 wt Allele [NCIt concept]
- anemia, sickle cell [MeSH Descriptor]
- hemoglobin c disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Alpha thalassemia [ICD-10 Sub-category]
- Haemoglobin H disease [MedDRA LLT]
- Hemoglobin H Disease [NCIt concept]
- Hemoglobin H disease [ORDO Disease]
- Hemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease (disorder) [SNOMED CT concept]
- hemoglobin H disease [DO Concept]
- hemoglobin h disease [SNOMED Notion]
DO Cross reference
- hemoglobin H disease [DO Concept]
False automatic mappings
- alpha-Thalassemia [MeSH Descriptor]
- alpha-Thalassemia [MeSH concept]
Genes related to phenotype
- Hemoglobin--alpha locus 1 [OMIM gene]
- Hemoglobin--alpha locus 2 [OMIM gene]
HPO term(s)
- HbH hemoglobin [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Reduced alpha/beta synthesis ratio [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hemoglobin H disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha thalassaemia intermedia [MedDRA LLT]
- Alpha thalassemia intermedia [MedDRA LLT]
- Haemoglobin H disease [MedDRA LLT]
- HbH hemoglobin [HPO term]
- Hemoglobin H Disease [NCIt concept]
- Hemoglobin H disease [MedDRA LLT]
- Hemoglobin H disease (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- alpha thalassemia [Disease (Nov.)]

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