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:: Volume 4, Issue 3 (Autumn 2007) ::
Sci J Iran Blood Transfus Organ 2007, 4(3): 231-236 Back to browse issues page
A case of Hemoglobin Lepore combined with beta thalassemia( heterozygote form)
A. Azarkeivan , H. Najmabadi , F.S. Esteghamat , H. Imanian , S. Ebrahimkhani
Abstract:   (39680 Views)


 Background and Objectives

  Thalassemia is a congenital anemia which is endemic in our region. In our country the national prevention program is followed for the couples who want to get married to be screened via CBC test then, according to the results, complementry tests are conducted. Through this program the carriers will be diagnosed and new cases might be avoided by prenatal diagnosis.



  We had a 2.5 year old patient with anemia who came to our thalassemia clinic for exact diagnosis. In her history, her mother had minor beta thalassemia and her father had Hb D or G in Hb electrophoresis pattern. Their hematology consultation before showed that their infant will not have any chance of being affected with major thalassemia. CBC, Hb electrophoresis ( Cellulose Acetate pH:8.4) and molecular diagnosis of beta genes were performed for parents and the child. In hematological study, the patient had low Hb level, high reticoulocyte count (10%) and severe morphologic changes in smear. Hb electrophoresis pattern showed 15.9% HBA, 79 % HbF and 4.1% HbD or G. Genetic study showed IVS II-I/N for mother and Hb Lepore/N, Hb D negative for father. The patient was Hp Lepore/IVS II-I which is the combined form of Hb Lepore and b thalassemia mutation. The diagnosis indicated of hetrozygote b thalassemia and Lepore hemoglobin which is the same as intermedia thalassemia phenotype.



  Hemoglobin Lepore is a variant of thalassemia syndrome with the crossing over of chromosome 11. In Hb electrophoresis, hemoglobin Lepore band is overlapped with Hb D or G and can not be differentiated by these laboratory methods. In our country, in screening program for prevention of thalassemia, we have many cases with thalassemia minor. Since Hb Lepore electrophoresis band overlaps with Hb D or G, in Hb D or G patients who want to get married with other hemoglobinopathy patients, the possibility for Hb Lepore to go undetected should be considered.


 Key words: Hb Lepore, Thalassemia, Differential diagnosis


Keywords: Hb Lepore, Thalassemia, Differential diagnosis
Full-Text [PDF 205 kb]   (5694 Downloads)    
Type of Study: Research | Subject: Hematology
Published: 2014/08/17
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Azarkeivan A, Najmabadi H, Esteghamat F, Imanian H, Ebrahimkhani S. A case of Hemoglobin Lepore combined with beta thalassemia( heterozygote form). Sci J Iran Blood Transfus Organ 2007; 4 (3) :231-236
URL: http://bloodjournal.ir/article-1-178-en.html

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Volume 4, Issue 3 (Autumn 2007) Back to browse issues page
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
The Scientific Journal of Iranian Blood Transfusion Organization - Copyright 2006 by IBTO
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