Hemoglobin H disease

General Information (adopted from Orphanet):

Synonyms, Signs: ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE
HEMOGLOBIN H DISEASE, DELETIONAL HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED
HBH
HbH disease
Alpha-thalassemia intermedia
Number of Symptoms 5
OrphanetNr: 93616
OMIM Id: 613978
ICD-10: D56.0
UMLs:
MeSH:
MedDRA:
Snomed: 48553001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alpha-thalassemia
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease
Pituitary hormone deficiency secondary to storage disease
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001744) Splenomegaly 337 / 7739
2
(HPO:0002240) Hepatomegaly 467 / 7739
3
(HPO:0001878) Hemolytic anemia 83 / 7739
4
(HPO:0011903) Hemoglobin H 3 / 7739
5
(HPO:0011907) Reduced alpha/beta synthesis ratio 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM - Deletional Hemoglobin H Disease

Hb H disease is generally thought to be a mild disorder. However, there is marked phenotypic variability ranging from asymptomatic, to needing periodic transfusions, to severe anemia with hemolysis and hepatosplenomegaly, ...

Molecular genetics OMIM Hemoglobin H disease results from the inactivation of 3 of the 4 alpha-globin genes on both chromosomes 16. There are more than 20 known natural deletions that remove both alpha-globin genes on the same chromosome 16 (in cis) ...
Population genetics OMIM Hb H disease is found in many parts of the world, including Southeast Asian, Middle Eastern, and Mediterranean populations. It is particularly prevalent in Southeast Asia and in southern China, because of the high carrier frequencies of the ...