A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency
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. Glu...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2020-10-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/14085/44968_CE[Ra1]_F(SL)_PF1(AG_KM)_PFA_NC(KM)_PN(SL).pdf |
| _version_ | 1819065575586922496 |
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| author | Jitendar Mohan Khunger Monika Gupta Ankur Jain Monica Khunger Malhotra |
| author_facet | Jitendar Mohan Khunger Monika Gupta Ankur Jain Monica Khunger Malhotra |
| author_sort | Jitendar Mohan Khunger |
| collection | DOAJ |
| description | 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
β-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. |
| first_indexed | 2024-12-21T15:48:39Z |
| format | Article |
| id | doaj.art-6052e5c55bde4355b03fd4665bc3b12e |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-21T15:48:39Z |
| publishDate | 2020-10-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-6052e5c55bde4355b03fd4665bc3b12e2022-12-21T18:58:18ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2020-10-011410ED01ED0310.7860/JCDR/2020/44968.14085A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase DeficiencyJitendar Mohan Khunger0Monika Gupta1Ankur Jain2Monica Khunger Malhotra3Consultant and Associate Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.Associate Professor, Department of Pathology, PGIMS, Rohtak, Haryana, India.Assistant Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.Hematology-Oncology Fellow, Division of Hematology and Oncology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.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 β-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.https://jcdr.net/articles/PDF/14085/44968_CE[Ra1]_F(SL)_PF1(AG_KM)_PFA_NC(KM)_PN(SL).pdfanaemiahaemoglobinpallorred blood cells |
| spellingShingle | Jitendar Mohan Khunger Monika Gupta Ankur Jain Monica Khunger Malhotra A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency Journal of Clinical and Diagnostic Research anaemia haemoglobin pallor red blood cells |
| title | A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency |
| title_full | A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency |
| title_fullStr | A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency |
| title_full_unstemmed | A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency |
| title_short | A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency |
| title_sort | rare case of coexistence of homozygous β thalassaemia and glucose 6 phosphate dehydrogenase deficiency |
| topic | anaemia haemoglobin pallor red blood cells |
| url | https://jcdr.net/articles/PDF/14085/44968_CE[Ra1]_F(SL)_PF1(AG_KM)_PFA_NC(KM)_PN(SL).pdf |
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