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Relationship of Frequency of IVS 1-5 (G-C), Fr 8-9 (+G), Fr 41-42 and cd-5 Mutations of β-Thalassemia Traits with Red Cell Indices

Relationship of Frequency of IVS 1-5 (G-C), Fr 8-9 (+G), Fr 41-42 and cd-5 Mutations of β-Thalassemia Traits with Red Cell Indices

Muhammad Waqas1, Naveed Ahmed2*, Hamid Saeed Malik1, Unaiza Qamar3, Hasnain Javed4 and Ahsan Hussain1

1Department of Molecular Biology, Armed Forces Institute of Pathology, Rawalpindi
2Department of Medical Microbiology and Parasitology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150, Malaysia
3Department of Pathology Laboratory, Pakistan Kidney and Liver Institute and
Research Center, Lahore
4Advance Diagnostic Lab, Punjab AIDS Control Program, Lahore
 
* Corresponding author: namalik288@gmail.com

ABSTRACT

A descriptive study was carried out to assess the mean ranges of red blood cell (RBCs) indices in β-thalassemia carrier patients with frequency of different common and uncommon/uncharacterized mutations that are IVS 1-5 (G-C), Fr8-9 (+G), Fr 41-42 and Cd 5 mutations of β-thalassemia traits. A total 293 β-thalassemia carrier patients were included in study. Fr 8-9 (+G) was found the most common mutation of β-thalassemia carrier patients in the population which was 112 (38.2%), followed by IVS1-5 (G-C) which was 82 (28%), Fr41-42 which was 24 (8.2%), Cd 5 which was 20 (6.8%) and others which were 55 (18.8%) patients. The IVS 1-5 (G-C) was the most common mutation in Punjabis while Fr 8-9 (+G) was the most common mutation in Pathan community. Lowest hemoglobin (Hb) level was found in IVS 1-5 mutations of β-thalassemia carrier patients, while the average Hb in β-thalassemia carrier patients was 11.54 but it also varied gender-wise, different ethnic origin and in different mutation. The mean MCV was 62.94fl, MCH 19.46pg, MCHC 30.74g/dl and RDW 39.06fl. The final findings showed that IVS 1-5 (G-C) was the most common mutation in Punjabis and Fr 8-9 (+G) is the most common mutation of Pathan community. Lowest Hb was found in IVS 1-5 Mutation of β-thalassemia carrier patients.

 

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Pakistan Journal of Zoology

October

Vol. 54, Iss. 5, Pages 2003-2500

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