mjl1717
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Is there anyone who can give a brief synopsis of diagnosis and treatment for beta thalassemia?
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| arlete
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Suspition: patients from Mediterranean origin, Asians, blacks. In minor beta-thalassemia, they have common symptoms of anemia (proportional to severity: fatigue, palpitations, SOB, etc). In major beta-thalassemia, the infant presents symptoms early, because of the decline in fetal hemoglobin: growth retardation, bone deformity/pathological fracture, hepatosplenomegaly, jaundice.
Diagnosis: CBC, peripheral blood smear (hypochromic microcytic anemia, target cells), hemoglobin electrophoreses.
Treatment: minor beta-thalassemia generally does not require treatment, but acid folic may be given, transfusion in special situations (pregnancy, stress); major beta-thalassemia is treated with multiple transfusions (there's an iron overload risk, so never give iron in thalassemia, only folic acid), splenectomy, bone marrow transplant, but there's low chance of cure, bad prognosis.
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| cirus
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Simply microcytic hypochromic anemia + Toatally normal iron studies= Thalassemia
B major may present with bony defomaties as frontal bossing as it is more profound but any way u have to get an hb electrophoresis for that..
Ofcourse ethnicity directs u
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| mjl1717
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Thx,
1) in addition its usually a point mutation
2)there is increase Hemoglobin F and A2
3)damage to RBC's and intrameddulary and peripheral hemolysis
4)microcytosis, and acanthocytes
5)patients homozygous for B-Thal. have thal. major.
6)transfusion>iron overload-hemosiderosis to > full blown hemochromotosis
7)initial Rx-- folate and transfusion schedule, low iron diet
8)best Rx allogenic bone marrow transplant.
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