[Home ] [Archive]   [ فارسی ]  
:: Volume 20, Issue 3 (Scientific Journal of Kurdistan University of Medical Sciences 2015) ::
SJKU 2015, 20(3): 79-85 Back to browse issues page
Alpha globine gene mutations in a case series of Kurdish Iranian alpha thalassemia patients
Latifeh Mohammadpour 1, Mohammad sadegh Fallah Dr2, Fatemeh Keshavarzi Dr 3, Siroos Zeinali Dr2, Bayazeed Ghaderi Dr4, Azad Fattahy Rad Dr5, Reza Akramipour Dr, Sara Azadmehr 2
1- Department of Biology, Sanandaj Branch, Islamic Azad University, sanandaj, Iran.
2- Kawsar Human Genetics Research Center, Tehran, Iran.
3- , gol.keshavarzi@gmail.com
4- Internal Medicine, Faculty of Medicine, Kurdistan University of Medical Science, Sanandaj , Iran.
5- Tohid Hospital, Kurdistan University of Medical Science, Sanandaj, Iran.
Abstract:   (3633 Views)
Background and Aim: Alpha Thalassemia is an autosomal recessive genetic disease by reduced or absent synthesis of alpha globin polypeptide chains. One of the severe forms of disease with 3 alpha globin genes inactivation is H disease. In this study genotype of H disease was assessed in some patients with blood abnormalities referred to hospitals of Kermanshah and Kurdistan provinces. Materials and method: In this descriptive research, 110 patients with microcytic and hypochromic anemia were recruited. Based on CBC and hemoglobin electro‌phoresis tests in patients before blood transfusion or their parents, alpha thalassemia was diagnosed. DNA was extracted by salting out method. The common deletions, alpha globin point mutations and direct sequencing were investigated using multiplex PCR and Sanger methods respectively. Results: In twelve alpha thalassemia patients, it has been shown the deletion mutations of --Med in 5 patients (20.8%), -α3.7 in 4 patients (6.6%) and -α20.5 in 3 patients (12.5%) and also point mutations polyA1 in 3 patients (12.5%),-αcd59 in 2 patients (8.3%) and -αIVSI (-5nt) in 2 patients (8.3%). In 4 cases deletion (-α/--) and in 3 cases (40%) non-deletion H disease (--/ααT) were diagnosed. Two cases showed point mutation of ααT/ααT. Two patients were blood-transfusion dependent. The first one who received regu‌lar blood monthly, showed --Med/αcd59 genotype. The second one with -α20.5/-α3.7 genotype received blood occasionally. In 7 patient’s enlargement of spleen was observed and in 3 patients splenectomy was performed earlier. Conclusion: The results showed the genetic diversity in alpha-globin and the importance of point mutations in the H disease. However, further study should be done to determine the accurate genotype and phenotype relationship and to diagnose of H disease in prenatal cases. Keywords: Alpha Thalassemia, H disease, Kurdistan, Kermanshah. Received: Jul 16, 2014 Accepted: Feb 7, 2015
Keywords: Alpha Thalassemia, H disease, Kurdistan, Kermanshah
Full-Text [PDF 1171 kb]   (771 Downloads)    
Type of Study: Research | Subject: General
Received: 2015/07/12 | Accepted: 2015/07/12 | Published: 2015/07/12
Send email to the article author

Add your comments about this article
Your username or Email:

CAPTCHA code



XML   Persian Abstract   Print


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

Mohammadpour L, Fallah M S, Keshavarzi F, Zeinali S, Ghaderi B, Fattahy Rad A, et al . Alpha globine gene mutations in a case series of Kurdish Iranian alpha thalassemia patients. SJKU. 2015; 20 (3) :79-85
URL: http://sjku.muk.ac.ir/article-1-1851-en.html


Volume 20, Issue 3 (Scientific Journal of Kurdistan University of Medical Sciences 2015) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
Persian site map - English site map - Created in 0.06 seconds with 30 queries by YEKTAWEB 3781