thalassemia

a 40 year old white,married mother of three was scheduled for an abdominal hysterectomy.Pre surgical blood testing revealed that the patient was anaemic.Laboratory results were:

• Hb:9.5g/dL
• Hct:29%
• erythrocyte count:4.6 x 1012/l

Surgery was postponed and she was given oral and parenteral iron therapy.3 weeks later,her blood count results were:

• Hb:9.4 g/dL
• Hct:30%
• Erythrocyte count:5.0 x 1012/l
• Leucocyte count:7.3 x 109/l
• Reticulocyte count ;2.5%
• bilirubin:0.5mg/dLwith 0.1mg/dL conjugated
• serum iron:67 mikro g/dL
• TIBC: 294 mikro g/dL

she claimed that she had history of anaemia with many courses of iron therapy but she hadnever had a normal hematocrit.There was no history of chronic illness,nothing to suggest malabsorption and no known GI bleeding.Her father and two sisters were anaemic and niece was being evaluated for anaemia.

Hb electrophoresis was performed on this patient and the following results were obtained.

• HbA2 (4.7%)
• HbF (1.1%)
• HbA (94.2%)

questions

1. what is your provisional diagnosis?(minor Beta thalassemia)
2. discuss the pathogenesis,investigation and treatment
3. interprate the Hb electrophoresis.also discuss the Hb electrophoresis in

• major beta thalassemia
• sickle cell anaemia
• Hb E disease & compound heterozygous
• alpha thalassemia

p/s:this short case was prepared by anis duha for our study group discussion.please ask her if u encounter any problem=p.we hope this case can trigger your mind and to understand better about this disease.please dont stress. we are trying to help each other.terima kasih

[happy study]