Pemantauan Janin pada Ibu Hamil

Penderita Thalassemia
Makmur Sitepu
Divisi FM FK-USU/Rs.HAM Medan
Thalassemia
 Reduction or absence of one of the globin polypeptides
making up haemoglobin
 Haemoglobin is a tetramer composed of 2 α type globin
chains and 2 β type globin chains
 Human Haemoglobins and Globin Genes
Thalasemias are hereditary blood disorsers coused by reduced
synthesis one or more of the globin chains

 Thalassaemias are hereditary blood disorders caused by a

Reduced synthesis of one or more of the globin chains
Haematopoiesis
Alpha-Thalassemia
Αlpha Thalassemia
Beta-Thalassemia

 β-thalassemia has three phenothypic presentations: the trait,

intermedia, and major
 In homozygous β-thalassemia, α-chain production in
unimpeded, unstable chains, severe hemolysis (Colley anemia)
 The fetus is protected from severe disease by α-chain production
Beta Thalassemia
Techniques for determination of Thalassemia and Hb
variants
 High performance liquid chromatography (HPLC)
 HB electrophoreses
Summary of Management Options
β- Thalassemia Major and Minor
 Prepregnancy and Prenatal
 Stop iron chelators, give calcium and vitamin D supplements if
bone density is reduced
 Avoid iron
 Give folate
 Give regular transfusions for anemia
 Screen partner, if the result (+), consider counseling and
prenatal diagnosis
Summary of Management Options

α-Thalassemia (Hemoglobin-H)
 Prepregnancy and Prenatal
 Give folate
 Transfusion for severe anemia
 Screen partner
Summary of Management Options
α-Thalassemia (Hemoglobin and Bart’s Hydrops)

 Prenatal and Prenatal

 No treatment for fetal hydrops (incompatible with life)
 Labor and Delivery
 Problems related to large fetus

α-Thalassemia Minor/Trait
 Prepregnancy and Prenatal

 Provide iron and folate supplementation

 Screen partner
Prenatal diagnosis
Specimen collection
1. Chorionic villous sampling
GA 10-14 wk
Detected mutation of globin gene
2. Amniocentesis
GA 16-20 wk
Chromosome analysis
3. Fetal blood sampling
GA > 18 wk
DNA-based analysis or Hb electrophoresis
4. Ultrasonogram
Hb Bart’s hydrops fetalis at GA > 20 wk
Solution for Thalassemia

1. Community information
2. Population screening
3. Genetic counseling
4. Prenatal diagnosis
5. Termination of affected pregnancy
Management of Thalassemia

 Blood Transfusion
 Iron-chelating therapy
 Gene therapy