HEMOGLOBINOPHATIES

CLASSIFIED INTO TWO MAJOR GROUPS

1. THALASSEMIA
Quantitative deficiencies in the production of
globin chains
2. HEMOGLOBINS DISORDERS
Structural abnormalities of globin chains

1
 THALASSEMIA

ESSENTIAL OF DIAGNOSIS & TYPICAL

FEATURES
Africans , Mediteranian, Middle Eastern,
Chinese, or Southeast Asian ancestry
Mycrocytic, hypochromic anemia of variable
severity
Hemoglobin Barts detected by neonatal
screening

2
Differential diagnose
Thalassemia trait
DD
Iron Deficiency Anemia
Thalassemia minor
HbH disease
DD
Other hemolytic anemias
Hydrops fetalis
DD
Hydrops due to other causes of anemia such as isoimmunization
Treatment
Thalassemia trait require no treatment
Hb H disease should receive folic acid, avoid the same oxidant drugs
Transfusion
Splenectomy
Genetic counceling and prenatal diagnosis

3
 Thalassemia
ESSENTIAL OF DIAGNOSIS & TYPICAL FEATURES
Thalassemia mayor
Neonatal screening shows HbF only
Mediteranean, Middle Eastern or Asian ancestry
Severe microcytic, hypochromic anemia with
marked hepatosplenomegaly

Thalassemia minor
Normal neonatal screening test
African, Mediteranean, Middle Eastern or Asian
ancestry
Mild microcytic, hypochromic anemia
No respon to iron therapy
4
Elevated level oh Hb A2
Symptom and sign
Thalassemia minor are asymptomatic
Thalassemia mayor :
Are normal at birth but develop significant
anemia during the 1st year
Skeletal abnormalities
Liver enlarged
Cardiac abnormality
Kidney enlarged
Growth retardation
Hypersplenism
5
LABORATORY FINDINGS
Severe hypochromia and microcytosis
Red cell morphology strikingly abnormal
Bizarre poikilocytes, tear drops cell, target cell
Nucleated red cell invariably
White blood cell count elevated, moderate
polymorphonuclear leukocytosis, and normal
platelet
Bone marrow normoblastic hyperplasia
Increased serum iron
Iron binding protein saturated fully
Hb predominantly HbF
HbA2 : HbA 1:40
6
Differential diagnose
Thalassemia minor
DD : Iron deficiency Anemia
Thalassemia
Thalassemia major is rarely confused
with other disorder

7
TREATMENT

Thalassemia Minor requires no specific

therapy
Thalassemia Mayor
Chronic transfusion with iron chelation
Stem cell transplantation

8
Prognosis

Untreated Thalassemia die in the first

decade from anemia, septicemia, and
pathologic fractures
With frequent chronic transfusion therapy
and use small pump deferoxamine sc
children survive to adulthood