Question

Homozygous and compound heterozygous mutation of beta thalassemia-what is it means?

Answer 1

Alleles. Thalassemia minor.Heterozygous form: Only one of βglobin alleles bears a mutation. Individuals will suffer from microcytic anemia. Detection usually involves lower than normal mean corpuscular volume value (<80 fL)...


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Answer 2

Answer:

Although the IVS-II-654(C>T)β+ heterozygous mutation may cause 'light' β-thalassemia that does not require special treatment, homozygous and compound heterozygous mutations may lead to severe disease and the affected patient usually requires regular blood transfusions.