Haemoglobin Olympia {β Codon 20 (B2) GA, ValMet}: A Silent Haemoglobin Variant
Published: March 1, 2021 | DOI: https://doi.org/10.7860/JCDR/2021/47560.14677
Abhay A Bhave, Lakshmi Iyer, Nawal Kazi, Manju Gorivale, Anita Nadkarni
1. Hematologist, Department of Haematology, Empire Centre Haematology and Oncology Specialty Clinic, Mumbai, Maharashtra, India.
2. Clinical Assistant, Department of Haematology, Empire Centre Haematology and Oncology Specialty Clinic, Mumbai, Maharashtra, India.
3. Clinical Assistant, Department of Haematology, Empire Centre Haematology and Oncology Specialty Clinic, Mumbai, Maharashtra, India.
4. Laboratory Technician, Department of Haematology, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
5. Deputy Director, Department of Haematology, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India.
Correspondence
Anita Nadkarni,
National Institute of Immunoh aematology (ICMR), 13th Floor, New Multistoried
Building, K.E.M. Hospital Campus, Parel, Maharashtra-400012, Mumbai, India.
E-mail: anitahnadkarni@yahoo.com
High oxygen affinity haemoglobin variants are rare and often underdiagnosed in persistent erythrocytosis with no apparent aetiology. Here the author present a 29-year-old Indian male patient with a long-standing history of erythrocytosis which was incidentally detected. The proband had a prothrombotic family history of cerebral vessel stroke in his paternal grandfather at a young age and unexplained erythrocytosis in his father and brother. A review of his haemograms showed persistent high haemoglobin values. Routine tests did not reveal any specific aetiology and haemoglobin electrophoresis by High-Performance Liquid Chromatography (HPLC) showed absence of any abnormal peak or unstable haemoglobin. DNA sequencing of the β globin gene revealed heterozygosity for codon 20 {GTGATG, Valine (Val) Methionine (Met)} mutation confirming the presence of an electrophoretically silent Hb variant - Haemoglobin Olympia in him and his extended family members. This case study emphasises importance of this rare entity of high oxygen affinity haemoglobin variant as a differential diagnosis while screening for erythrocytosis. This is the first case report of Haemoglobin Olympia from India reported in the literature.
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