Molecular Bases of β-Thalassaemia in the Thalassaemic Population of Bhopal

Journal Title: People's Journal of Scientific Research. - Year 2008, Vol 1, Issue 1

Abstract

Beta- Thalassaemia is a group of heterogeneous recessive disorders common in many parts of the world and one of a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for controlling it. Genetic analysis for Beta - Thalassaemia disorder is carried out by Amplification Refractory Mutation System (ARMS) technique. Blood samples of 50 cases of thalassaimia were obtained from patient attending Pediatrics OPD of Gandhi Medical College & Delta Pathology laboratory, Bhopal and were tested. Out of seven common â - thalassaemia mutation, IVS1 [Intra Venous Sequences] nt 5 [nucleotides] (GgC)], IVS1 nt 1 (GgT), Deletion 619 bp (basic pair) and Cap+1(AgC) were found in population of Bhopal in 39.52%, 16.27%, 18.59%, 6.97% respectively. Early detection of thalassaemia is, therefore, important not only from treatment point of view, but also for the prevention by genetic counseling.

Authors and Affiliations

C. B. S. Dangi,, N. C. Sharma , , R. Mishra , M. Sajid

Keywords

Related Articles

Congenital Eccrine Angio Keratomatous Hamartoma

Eccrine Angio Keratomatous Hamartoma (EAKH) is a recently recognized skin lesion. It comprises of histological features of both Angiokeratoma and Eccrine Angiomatous Hamartoma (EAH). Only two cases have been reported i...

Bilateral Multicystic Dysplastic Kidneys in Association with High Ano-Rectal Anomaly - A Case Report

Multicystic dysplastic kidney disorder (MCDK) is commonly sporadic but is rarely an inherited congenital disease. It is the commonest cause of abnormally enlarged kidney, diagnosed on antenatal ultrasound examination. It...

Relationship Between Glycosylated Hemoglobin and Risk of Microalbuminuria in Patients with Type 2 Diabetes Mellitus

Nephropathy is a common complication of Diabetes Mellitus that could lead to End Stage Kidney Disease (ESKD). Microalbuminuria is important as an ‘early marker’ of renal disease as it represents a time when renal biops...

Multiple Splenic Tubercular Abscesses in an Immunocompetent Patient

Tubercular splenic abscess is an extremely rare clinical entity particularly among immunocompetent patients. It has been reported in association with immunodeficiency states. We report a case of 34 years old HIV negative...

Inverted Follicular Keratosis Scalp

Inverted follicular keratosis (IFK) is a solitary benign epithelial tumor of infundibular hair follicle, generally observed in middle-aged and older individuals. An elderly male presented with a rough & raised pink c...

Download PDF file
  • EP ID EP113540
  • DOI -
  • Views 124
  • Downloads 0

How To Cite

C. B. S. Dangi, , N. C. Sharma, , R. Mishra, M. Sajid (2008). Molecular Bases of β-Thalassaemia in the Thalassaemic Population of Bhopal. People's Journal of Scientific Research., 1(1), 13-15. https://europub.co.uk/articles/-A-113540