A CASE OF HEMOGLOBIN LEPORE COMBINED WITH BETA THALASSEMIA (HETEROZYGOTE FORM)

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AZAR KEYVAN A.; NAJMABADI H.; ESTEGHAMAT F.A.S.; IMANIAN H.; EBRAHIM KHANI S.

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Journal: The Scientific Journal of Iranian Blood Transfusion Year:2007 | Volume:4 | Issue:3 (15) Page(s): 231-236

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Title

A CASE OF HEMOGLOBIN LEPORE COMBINED WITH BETA THALASSEMIA (HETEROZYGOTE FORM)

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Keywords

HB LEPOREQ4

THALASSEMIAQ3

DIFFERENTIAL DIAGNOSISQ4

Abstract

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.Case: 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.Conclusions: 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.

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APA: Copy

AZAR KEYVAN, A., NAJMABADI, H., ESTEGHAMAT, F.A.S., IMANIAN, H., & EBRAHIM KHANI, S.. (2007). A CASE OF HEMOGLOBIN LEPORE COMBINED WITH BETA THALASSEMIA (HETEROZYGOTE FORM). THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), 4(3 (15)), 231-236. SID. https://sid.ir/paper/78493/en

Vancouver: Copy

AZAR KEYVAN A., NAJMABADI H., ESTEGHAMAT F.A.S., IMANIAN H., EBRAHIM KHANI S.. A CASE OF HEMOGLOBIN LEPORE COMBINED WITH BETA THALASSEMIA (HETEROZYGOTE FORM). THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON)[Internet]. 2007;4(3 (15)):231-236. Available from: https://sid.ir/paper/78493/en

IEEE: Copy

A. AZAR KEYVAN, H. NAJMABADI, F.A.S. ESTEGHAMAT, H. IMANIAN, and S. EBRAHIM KHANI, “A CASE OF HEMOGLOBIN LEPORE COMBINED WITH BETA THALASSEMIA (HETEROZYGOTE FORM),” THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), vol. 4, no. 3 (15), pp. 231–236, 2007, [Online]. Available: https://sid.ir/paper/78493/en

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