You are using an outdated browser. Please upgrade your browser to improve your experience.

beta-thalassemia HBB/LCRB

Disease Summary
Associated Targets (9)
Tbio

5

Tclin

3

Tchem

1


Mondo Description Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
Uniprot Description A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.
Mondo Term and Equivalent IDs
MONDO:0013517:  beta-thalassemia HBB/LCRB
SCDO:0000251: