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Showing 2 results for Hemoglobinopathies

Fatemeh Asadi , Seyedeh Moloud Rasouli Ghahfarokhi , Forough Talebi ,
Volume 13, Issue 2 (3-2019)
Abstract

ABSTRACT
             Background and Objectives: Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran.
             Methods: This descriptive study was carried out on 456 individuals suspected of having hemoglobinopathies who were referred to health centers of the Masjed Soleiman Country in 2015-2017. Blood samples were collected in EDTA tubes. Complete blood count test was performed and red blood cell indices were determined. Level of Hb variants was measured using capillary electrophoresis. Reverse dot-blot, gap-polymerase chain reaction and Sanger sequencing were carried out to detect mutations. 
             Results: We found that 17.7% of the subjects were heterozygous for β-thalassemia. Frequency of mutations 36/37 (–T), IVS-II-1 (G>A) and IVS-I-110 (G>A) in the β-globin gene was 26.7%, 22% and 16.27%, respectively. In addition, 9.5% of the subjects contained Hb S, Hb D and Hb C, while 1.1% of the subjects showed co-inheritance of an Hb variant and β-thalassemia. In subjects with α-thalassemia, the -α3.7 (57.1%), -- MED–(17.4%), -α4.2 (3.1%) and -α20.5 (1.5%) deletions were found as the most prevalent mutations.
             Conclusion: In addition to the high prevalence of β-thalassemia and HBB gene mutations, we detected variants Hb S, Hb D, Hb C and co-inheritance of an Hb variants and β-thalassemia in individuals living in the Masjed Soleiman Country. We also identified four mutations in the α-globin gene. These results can be useful for genetic counseling in this population.
  1.              : Hemoglobinopathies, β-Thalassemia, α-Thalassemia, mutation, HB variant.

Dr. Parineeta Shelke, Dr. Preeti Doshi, Dr. Amit Nisal, Dr. Abdulrahaman Momin, Dr. Ravindra Nimbargi,
Volume 19, Issue 1 (4-2025)
Abstract

Background and objectives: Hemoglobinopathies is group of genetic disorders affecting structure or production of hemoglobin. Two main categories are thalassemia syndromes and structural hemoglobin variants. Preventing inherited hemoglobinopathies has been recognized as an international health priority. These disorders can now be accurately diagnosed using HPLC. The present study was aimed at studying various hemoglobinopathies using HPLC from Western Maharashtra, India.
Methods: The cross sectional study was conducted in Bharati Vidyapeeth (DTU) Medical College, Pune. During the study period of 3 years, total 1455 specimens of either gender were analyzed for variant analysis, using VARIANTTM II β-thalassemia Short Programme. The HPLC with ion exchange chromatography principle was used. The hematological parameters were estimated in every subject. The incidence of hemoglobinopathies, with its types is presented.
Results: The age of the 1455 subjects included was 26.91 ± 7.06 years, of which majority were females. The overall incidence of hemoglobinopathies found to be 8.78%. The most prevalent condition was β-thalassemia minor, followed by β-thalassemia major, Hb S trait and Hb S disease. There were 2 cases with heterozygous for Hb D Punjab and 1 was heterozygous for Hb E. Mentzer index was positively associated with Hb F and MCH, and negatively associated with hemoglobin, Hb A and RDWC levels.
Conclusion: The incidence of hemoglobinopathies in this region was reported to be 8.78%. The commonest hemoglobinopathies reported was β thalassemia, of which most were heterozygous for β thalassemia trait. The presence of Hb E increased the severity of anemia when present with β-thalassemia

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