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 64
- Downloads 0
Successful Management of the Masochistic Habit in a Child with Santovuori-HaltiaHagberg Disease (Infantile Neuronal Ceriod Lipofuscinoses)
Self-injurious behaviours are usually related to paediatric patients with mental retardation. The management of such patients is quiet challenging to the paediatric dentists because of the difficulty to communicate with...
Ergonomically Designed Patient Drape
Letter to Editor
A Wide Spread Red Lesion on the Surface of the Tongue-A Case Report and Review of Differential Diagnosis
The tongue is considered to be the strongest muscular organ in the body and a very important structure in the oral cavity. It is involved in various critical functions such as taste, speech, chewing and deglutition. It h...
Comparative Study of Etomidate and Midazolam with Fentanyl as Inducing Agents in Patients Undergoing Off-pump Coronary Artery Bypass Graft Surgery
ABSTRACT Introduction: Off-pump Coronary Artery Bypass Graft (CABG) surgery has promising out come with minimal morbidity and mortality. Conduction of anaesthesia is still a challenge in Coronary Artery Disease (CAD) pat...
Clinical Profile, Predictors of Death and Anthropometric Follow up in Neonates with Classical 21-Hydroxylase Deficiency
ABSTRACT Introduction: More than 95% of cases of Congenital Adrenal Hyperplasia (CAH) are due to 21-hydroxylase deficiency. This enzyme deficiency can present as either severe classic form or the non classic form. Severe...