| Remarks |
Clinically affected; sickle/delta beta thalassemia; Greek ancestry; diagnosed at age 4 years; joint and bone pain; splenomegaly causing pain crisis led to splenectomy; multiple transfusions but no need for iron chelation; hydroxyurea started about age 35 years with improvement in joint and bone pain; ocular migraines; transfusion dependent; hemoglobin electrophoresis results: HbA = 0%, HbA2 = 6.3%, HbF = 26.8%, HbS = 63.9%; hemoglobin = 10 g/dl; MCV = 87.7; affected brother is GM20432 |