[Home ] [Archive]   [ فارسی ]  
:: Main :: About us :: Current Issue :: Archive :: Search :: Submit :: Contact ::
Main Menu
Home::
Journal Information::
Articles archive::
For Authors::
For Reviewers::
Subscription::
News& Events::
Contact us::
Site Facilities::
Ethics & Permissions::
::
Search in website

Advanced Search
..
Receive site information
Enter your Email in the following box to receive the site news and information.
..
Indexing
                        
..
:: 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
Abstract:   (1916 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]   (659 Downloads) |   |   Full-Text (HTML)  (1065 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


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
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 0.06 seconds with 39 queries by YEKTAWEB 4645