Detection of Compound Heterozygous Sickle Cell-b+ Thalassaemia in a Patient with Extreme Weakness, Mild Jaundice and Moderate Anaemia - A Case Report
Journal Title: Journal of Clinical and Diagnostic Research - Year 2017, Vol 11, Issue 5
Abstract
A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-β+thalassaemia. Sickle cell test was also positive with blood of patient’s brother; Hb HPLC examination showed relatively low concentration of HbS (25.2%) suggesting a diagnosis of sickle cell trait. Chromatogram of patient’s step sister suggested a diagnosis of thalassaemia trait. Findings of this study suggested that abnormal genes were inherited in the patient from both the parents. It was interpreted that repeated haemolysis in the patient might have contributed to anaemia, weakness, rise in indirect bilirubin and jaundice. Furthermore, high level of HbF (>12%) may interfere with polymerization of sickle haemoglobin suggesting beneficial effects of HbF-inducing agents which may inhibit sickling.
Authors and Affiliations
Subhash Chandra, Mostafa Ali, Pooja Mishra, Ashok Kumar Kapoor, Yamini Jindal
Keywords
Related Articles
- EP ID EP341925
- DOI 10.7860/JCDR/2017/24471.9778
- Views 81
- Downloads 0
A Study on Gender Preference and Awareness Regarding Prenatal Sex Determination among Antenatal Women in a Rural Area of Darjeeling District, West Bengal, India
Introduction: Sex ratio is one of the major indicators to find the gender preferences in the community. Change in sex ratio reflects underlying socioeconomic, cultural patterns of a society. Aim: The present study was co...
Sexual Dimorphism of Maxillary Sinus: A Morphometric Analysis using Cone Beam Computed Tomography
Introduction: Age and sex determination in forensic sciences are primary components of any skeletal analysis. As most bones used for sex determination are recovered in incomplete state, it is often necessary to use bones...
A Rare Case of Digoxin Associated Gingival Overgrowth
This case report presents a case of drug induced gingival overgrowth in a 28-year-old female patient with history of Coronary Artery Disease (CAD) and was prescribed digoxin in combination with furosemide and acitrom for...
Oxidised LDL and Serum Paraoxanase Activity in Ischemic Stroke Patients: A Case Control Study
ABSTRACT Introduction: Oxidative stress by producing lipid peroxidation products like oxidised Low Density Lipoprotein (LDL) acts as independent risk factor in ischemic stroke. When lipid peroxidation overwhelms antioxid...
Additional Virtual Reality Sitting Balance Training Using XBox Kinect™ in Patients with Neurological Disorders: A Pilot Study
Introduction: Sitting balance is a prerequisite to upper extremity function, standing and walking, which is affected in various neurological diseases. It is important to attain a good level of sitting balance before one...