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At a Glance Thalassemia

Posted by dokterhasan on November 11, 2009

Thalassemia is hereditary disorder that characterized by reduction of Globulin Chains synthesis (Chains A (Alpha) or B (Beta)).

Reduced Globin Chain synthesis Reduces Hb Synthesis, Therefore become Anemia Microcytic Hypocrom; which has MCV value less than normal

A-Thalassemia, is due primarily to gene deletion.
Class :
AAAA (4 Alfa) = Normal
AAA = Silent Carrier, Life Normal without anemia
AA = Th.Minor
A = Haemoglobin H Disease
0 (No-Alfa Globin Chain) = Hidrops Fetalis

B-Thalassemia, is due primarily to gene Mutation.
Class :
Homozygote B (with normal B Chain) = Normal
Homozygote B (with abnormal B Chain) = Th.Major
Homozygote B (with abnormal B Chain, but with mild reduction)= Th.Intermedia
Heterozygote B (with abnormal B Chain) = Th.Minor

SYMPTOMPS AND SIGNS
——————————
A-Th.Syndromes :
– Primary in Southeast Asia and chinese people
– Th.Minor (AA), have a normal life and performance with mild an.microcytic hypochrom.
– Hb H Disease (A), Can life into adult with Chronic Hemolytic Anemia. The severity is variable. Stress condition, Infection, and some drugs may exacerbate the hemolytic anemia episode, and may require transfusion.
Because its Chronic symptoms of hemolytic anemia, splenomegaly usually found.
– Hidrops Fetalis (Without A-Chain globin) = Stillborn Baby

B-Th.Syndromes
– Primary Other Asians
– Typically Affected children with Th.Major are normal at birth, but after 6 months when Hb Synthesis switches, from HbF into HbA, the symptomps started dramatically with severe anemia that requiring transfusion.
When the affected Children grow up, commonly we can find :
growth failure, Jaundice, Hepatosplenomegaly, and Bony deformities.

The Clinical Course modified significantly by routine transfussions.
Usually after more than 100 units of transfusion RBC, There will be a Transfusioonal Iron Overload (Hemosiderosis).

Hemosiderosis can results :
Hearth Failure, Chirrocis, and endocrinophaty. This is because the iron stored exessively in these organs.

Usually These patiens death in 20-30 ages caused by hearth failure.

– In Th.Intermedia, patients can life into adult with Chronic Hemolytic Anemia periode which can exacerbated by infection, stress condition, drugs; and requiring Transfusions. The Organomegaly and Bonny deformities Usually Found.

– Th.Minor (Heterozygote B), Can life and perform normally with insignificant an. microcytic Hypochrom.

DIFFERENTIAL DIAGNOSES
———————————-
– Iron Deficiency. This An.Microcyt.hypochrome can differentiated by Iron studies
– Hemoglobinophaties. Differentiate only by Hb.Electrophoresis

THERAPIES
————–
– Folate Supplementation
– Avoid Iron and Oxidative Drugs (ex, Sulfa, Quinine,…)
– Transfusion, If Hb < 7; or if severe, maintain regular transfusion and Folate Supplementation.
– Splenectomy Required if hypersplenisme causes a marked Increase Transfusion
– Deferoxamine, as Iron Chelating Agent to avoid / Postpone hemosiderosis
– Low diet of Iron
– Allogenic Bone Marrow Transplantasion is the D.O.C of Th.B Mayor.

REFFERENCE : CURRENT MEDICAL DIAGNOSIS AND TREATMENT

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One Response to “At a Glance Thalassemia”

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