
A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency
Correspondence Address :Dr. Jitendar Mohan Khunger,
Department of Haematology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
E-mail: drjmkhunger@gmail.com
β-thalassaemia is one of the most prevalent autosomal disorders worldwide. Mutations/deletions in globin gene underlie deficiencies in Haemoglobin (Hb) production, which can interfere with oxygen delivery by Hb, resulting in thalassaemias causing anaemias with a wide range of disease severity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic abnormality resulting in inadequate amount of G6PD in the Red Blood Cells (RBCs). In patients with G6PD deficiency, the reduced or absent activity of the enzyme in RBCs causes premature haemolysis and symptomatic anaemia. The marked oxidative stress caused by homozygous ß-thalassaemia is apparently incompatible with G6PD deficiency. Here, a rare case of six-month-old male child is described who presented with severe pallor hepato-splenomegaly and these two conditions co-existed in this patient.
Anaemia, Haemoglobin, Pallor, Red blood cells
DOI: 10.7860/JCDR/2020/44968.14085
Date of Submission: May 15, 2020
Date of Peer Review: Jun 17, 2020
Date of Acceptance: Aug 14, 2020
Date of Publishing: Oct 01, 2020
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: May 18, 2020
• Manual Googling: Jul 31, 2020
• iThenticate Software: Sep 16, 2020 (3%)
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