Hemoglobin Op Ha Ties

8/10/2019 Hemoglobin Op Ha Ties

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HEMOGLOBINOPH TIES

CLASSIFIED INTO TWO MAJOR GROUPS

1. THALASSEMIA

Quantitative deficiencies in the production ofglobin chains

2. HEMOGLOBINS DISORDERS

Structural abnormalities of globin chains


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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


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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 asisoimmunization

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


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ThalassemiaESSENTIAL 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 Asianancestry

Mild microcytic, hypochromic anemia

No respon to iron therapy

Elevated level oh Hb A2


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Symptom and sign

Thalassemia minor are asymptomatic

Thalassemia mayor :Are normal at birth but develop significant

anemia during the 1styear

Facies cooley (mongoloid)

Skeletal abnormalities

Liver enlarged

Cardiac abnormality

Kidney enlarged

Growth retardation

Hypersplenism


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LABORATORY FINDINGS Severe hypochromia and microcytosis

Red cell morphologystrikingly abnormal Bizarre poikilocytes, tear drops cell, target cell

Nucleated red cell invariably

White blood cell count elevated, moderate

polymorphonuclear leukocytosis, and normalplatelet

Bone marrownormoblastic hyperplasia

Increased serum iron

Iron binding proteinsaturated fully Hb predominantly HbF

HbA2: HbA 1:40


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Differential diagnose

Thalassemia minor DD : Iron deficiency Anemia

Thalassemia

Thalassemia major is rarely confusedwith other disorder


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TREATMENT

Thalassemia Minor requires no specific

therapy

Thalassemia Mayor Chronic transfusion with iron chelation

Stem cell transplantation


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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

Hemoglobin Op Ha Ties

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