| Remarks |
Clinically affected; beta-thalassemia major; diagnosed during infancy; transfusion dependent since childhood with the exception of ages 9-15 years when transfusions were not needed; splenectomy at age 9 years; pulmonary hypertension diagnosed at age 40 years; left femur fracture at age 42 years; osteoporosis; gout; gastric ulcer; bronze skin complexion; blue sclera; short stature; endocrinopathies; hemoglobin electrophoresis results: HbA = 81.7%, HbA2 = 2.9%, HbF = 15.4%, HbS = 0%; hemoglobin = 10.1 g/dl; MCV = 86.1.
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