Disorder "Hemoglobin H Disease"
Found 2 records
Disorder information
Disorder name:
Hemoglobin H Disease
Disoder ID:
OMIM entry:
Synonyms:
HBH,alpha thalassemia, hemoglobin H type,alpha-thalassemia intermedia,hemoglobin H disease, deletional
Definition:
Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| HBA2 | HBA2:391GNC | Expressivity | Altered severity | From review article | The Hb Sun Prairie (HBA2:c.391GNC) gives rise to moderate HbH disease and splenectomy helped maintain the Hb level above 10 g/dlmore | more |
| HBA2:c.89TNC | Expressivity | Altered severity | From review article | The Hb Agrinio (HBA2:c.89TNC) helped to increase Hb level and lead to the independency of patientsfrom blood transfusionmore | more |
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