[Home ] [Archive]   [ فارسی ]  
:: Main :: About us :: Current Issue :: Archive :: Search :: Submit :: Contact ::
:: Volume 17, Issue 2 (Summer 2020) ::
Sci J Iran Blood Transfus Organ 2020, 17(2): 140-146 Back to browse issues page
A Case Report of Hb-Geelong in Hormozgan Province
M. Rafat, M. Shekari, E. Namjoo, F. Yazdi, Kianoosh Malekzadeh Dr.
Abstract:   (459 Views)
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.
 
Keywords: beta-Thalassemia, Hemoglobin, Prenatal Diagnosis
Full-Text [PDF 480 kb]   (102 Downloads) |   |   Full-Text (HTML)  (123 Views)  
Type of Study: case report | Subject: Thalasemia
Published: 2020/06/30
Send email to the article author

Add your comments about this article
Your username or Email:

CAPTCHA


XML   Persian Abstract   Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Rafat M, Shekari M, Namjoo E, Yazdi F, Malekzadeh K. A Case Report of Hb-Geelong in Hormozgan Province. Sci J Iran Blood Transfus Organ. 2020; 17 (2) :140-146
URL: http://bloodjournal.ir/article-1-1321-en.html


Volume 17, Issue 2 (Summer 2020) 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
Persian site map - English site map - Created in 0.07 seconds with 31 queries by YEKTAWEB 4227