A Case Report of Hb-Geelong in Hormozgan Province

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RAFAT M.; SHEKARI M.; NAMJOO E.; YAZDI F.; MALEKZADEH K.

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Journal: The Scientific Journal of Iranian Blood Transfusion Year:2020 | Volume:17 | Issue:2 Page(s): 140-146

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Title

A Case Report of Hb-Geelong in Hormozgan Province

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Keywords

beta-ThalassemiaQ3

HemoglobinQ3

Prenatal DiagnosisQ1

Abstract

Background and Objectives: Thalassemia is a group of inherited Hemoglobin disorders with defect in the synthesis of Hemoglobin chains. Case: The young couple resident in Bandar Abbas, a 23 year old woman with MCV: 63fl; MCH: 19; HbA2: 3. 9 and a 25 year old man with MCV: 94fl; MCH: 32; HbA2: 2. 1; HbF: 36, were referred to the Bandar Abbas Medical Genetic & PND Center for genetic counselling before marriage. Conclusions: A rare CD139 mutation (AAT → GAT) was detected which led to substitution of Asparagine by Aspartic Acid in 139th amino acid in Hemoglobin chain and created a Hemoglobin variant named Hb Geelong. This is the first report for Hb-Geelong in Iran. It seems that this mutation affects the Hemoglobin stability though a non-pathologic process and has a phenotype similar to minor β + thalassemia.

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References

Investigating the Awareness and Educational Requirements of Adolescents with Thalassemia and Active Members of the Afflicted Families in Bandar Abbas, Iran

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APA: Copy

RAFAT, M., SHEKARI, M., NAMJOO, E., YAZDI, F., & MALEKZADEH, K.. (2020). A Case Report of Hb-Geelong in Hormozgan Province. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), 17(2 ), 140-146. SID. https://sid.ir/paper/363124/en

Vancouver: Copy

RAFAT M., SHEKARI M., NAMJOO E., YAZDI F., MALEKZADEH K.. A Case Report of Hb-Geelong in Hormozgan Province. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON)[Internet]. 2020;17(2 ):140-146. Available from: https://sid.ir/paper/363124/en

IEEE: Copy

M. RAFAT, M. SHEKARI, E. NAMJOO, F. YAZDI, and K. MALEKZADEH, “A Case Report of Hb-Geelong in Hormozgan Province,” THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), vol. 17, no. 2 , pp. 140–146, 2020, [Online]. Available: https://sid.ir/paper/363124/en

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