Hemoglobin D-Punjab heterozygous encountered in Assam: a case report

Hemoglobin (Hb) D-Punjab is a haemoglobin variant with a point mutation in beta globin gene. A case of Hb D was encountered during screening of Hb variants among undergraduate students. With a prevalence rate of 2% in India, Hb D is generally rare in the Northeast region of India. Among the 200 screened cases, one Hb D heterozygous was detected by analysing the blood sample of the subject with an automated haematology analyser for complete blood count (CBC) and by using high performance liquid chromatography (HPLC) based Hb typing method. The haematological parameters were done in cell counter with Hg % 15.1 g/dl, mean corpuscular volume (MCV) 95 fl and mean corpuscular hemoglobin (MCH) 32.2 pg. The platelet value was high and high mean corpuscular hemoglobin concentration (MCHC) was obtained and the HPLC based haemoglobin typing was done with A2-2.9, A0-53.3, F- <0.8 area percentage and unknown window with 38.2 area percentage (retention time 3.86). Hb D Punjab heterozygous case has been reported in this report as prevalence of Hb D Punjab is very rare in the state of Assam.

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Journal
International Journal of Research in Medical Sciences
Published
2024-12-31
DOI
https://doi.org/10.18203/2320-6012.ijrms20244143
Primary Topic
Hemoglobinopathies and Related Disorders
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article
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article

Hemoglobin D-Punjab heterozygous encountered in Assam: a case report

Anupam Gogoi, Monalisha Saikia Borah, Mauchumi Saikia Pathak, Tanushree Debnath et al.
International Journal of Research in Medical Sciences
Hemoglobinopathies and Related Disorders
article

Hemoglobin D-Punjab heterozygous encountered in Assam: a case report

Anupam Gogoi, Monalisha Saikia Borah, Mauchumi Saikia Pathak, Tanushree Debnath, Zhoyio L. Phimu
article en

Abstract

Hemoglobin (Hb) D-Punjab is a haemoglobin variant with a point mutation in beta globin gene. A case of Hb D was encountered during screening of Hb variants among undergraduate students. With a prevalence rate of 2% in India, Hb D is generally rare in the Northeast region of India. Among the 200 screened cases, one Hb D heterozygous was detected by analysing the blood sample of the subject with an automated haematology analyser for complete blood count (CBC) and by using high performance liquid chromatography (HPLC) based Hb typing method. The haematological parameters were done in cell counter with Hg % 15.1 g/dl, mean corpuscular volume (MCV) 95 fl and mean corpuscular hemoglobin (MCH) 32.2 pg. The platelet value was high and high mean corpuscular hemoglobin concentration (MCHC) was obtained and the HPLC based haemoglobin typing was done with A2-2.9, A0-53.3, F- <0.8 area percentage and unknown window with 38.2 area percentage (retention time 3.86). Hb D Punjab heterozygous case has been reported in this report as prevalence of Hb D Punjab is very rare in the state of Assam.

International Journal of Research in Medical SciencesVol. 13(1)
Gauhati Medical College and Hospital (IN)
Good health and well-being
Openalex Percentile: Top 54%
Hemoglobinopathies and Related Disorders
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