This disorder is likewise inherited as a -thalassemia, but on 11p. The gene effected is the b -globin gene. Without treatment, patient develops a massively enlarged spleen and liver, develops enlarged medullary cavity with thinned cortex, prominent forehead and maxilla and pathologic fractures. May cause RBC sickling. Therapy consists of blood transfusions with iron chelation, bone marrow transplants.
Splenectomy reduces transfusions.
Pneuimmune vaccine before, after or without splenectomy and PCN after splenectomy reduce infection by Streptococcus pneumoniae . There seems to be no response to iron therapy.