Thalassemia

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     1  Thalassemia Patommatat MD
     2  Hemoglobinopathy Abnormal hemoglobin Clinical related to Abnormal Hb physical properties Thalassemias Inherited defect in rate of Synthesis of one or more globin chain
     3  Hemoglobin Heme + Globin
     4  GENE
     5  Chromosome 16 Chromosome 11
     6  Hb A
     7  Type of Hemoglobin Hb A Hb A2 Hb F Hb H Hb Bart’s a2ß2 a2d2 a2?2 ß4 ?4
     8  Thalassemia ???????????????????????????????????? Autosomal Resessive ???????????????????????????????????????????? ????? Hemoglobin ???????????????????????????????????????????????????????????? Homotetramer Ineffective erythropoiesis Hemolysis
     9  a Thalassemia aa/aa aa/-a aa/-- Normal
     10  a Thalassemia aa/aa aa/aCSa aCSa/aCSa Normal
     11  a Thalassemia aa/aa --/-- --/aCSa Normal
     12  a Thalassemia aa/aa --/-a Normal
     13  ß Thalassemia ßN/ßN ß0/ßN ßE/ßN Normal
     14  ß Thalassemia ßN/ßN ßE/ßE Normal
     15  ß Thalassemia ßN/ßN ß0/ß0 ß0/ßE Normal
     16  Combined a & ß Thalassemia --/-a , ßE/ßN --/-a , ßE/ßE --/acsa , ßE/ßN
     17  Couple at risk (?????????) ???????????????????????????????? ????????????????????????????????? ???????????????????????????????????????????????????????????????
     18  Chromosome diagram --/-a --/aa -a/aa -a/-- --/aa --/-- Hb Bart’s Hydrops fetalis a THAL 1 trait Hb H disease a THAL 2 trait
     19  Screening Test MCV Osmotic fragility test (OF) ??????????? RBC Positive in a-thal 1 trait ß-thal trait Hb E trait ????????? MCV ??? Also cover : All thalassemia disease, Homozygous HbE
     20  Screening Test DCIP test (Dichlorophenol-indophenol precipitation test) Abnormal Hb ????????? Positive in Hb E trait Also cover : Homozygous Hb E, Hb H disease
     21  Screening ??????????? Screening ??? Hb typing ??????????????? 100% ????? ???? ?????????????????????????? ??????? Screening ??? Hb typing ??????????????????? ?????????????? 100% ????????????????????????????????????????????
     22  Exercise
     23  Complication or Sequelae
     24  Treatment
     25  General measure Avoid iron riched food Avoid alcohol Avoid infection Good exercise Folic 5 mg oral OD
     26  Transfusion Benefit Symptomatic relief Decreased patient erythropoiesis Prevent progression of splenomegaly Decreased iron absorption from small bowel Method Occasional transfusion High transfusion keep Hct > 30%
     27  Splenectomy Indication Massive splenomegaly (compressive symptoms) Transfusion > 250 ml/kg/yr Good in Hb H-CS disease Complication Infection ? Pneumococcal vaccine 2-6 wk before splenectomy Venous thromboembolism ? Need Aspirin
     28  Iron chelators Indication Serum Ferritin > 1000 ?g/ml Desferoxamine 20-60 mg/kg/d sc. Slowly in infusion pump ???? infusion pump ~ 12000 ???
     29  SCT Thalassemia major : Homozygous ß Thalassemia ß thalassemia / Hb E disease severe case Transfusion to keep high Hb No Hemochromatosis Has HLA compatibility 80% cure from disease
     30  ???? a THAL 1 trait ?????????????????????????????? ? Vitamin C supplement ? Folic supplement ? Iron supplement ? ??????????????? ???????????? ? ????????????????????????? Normal population ? Genetic counseling