Hb M- Hyde Park - Rare Hemoglobinopathy in Tamil Nadu

Abstract

Cyanosis is most often due to cardiac or pulmonary disease, but genetic and acquired disorders of hemoglobin can result in significant arterial desaturation. Disorders such as methemoglobinemia, sulfhemoglobinemia, Hemoglobin M, Low oxygen affinity hemoglobin are the differential diagnosis once cardiopulmonary causes were excluded [1]. Acquired disorders are more common whereas long standing symptoms or symptoms in siblings is suggestive of hereditary causes. A 23-year-old female patient from Tamil nadu was admitted for mild respiratory distress with unexpected low oxygen saturation on pulse oximeter- 47%. Her arterial blood gas analysis was normal. History and medical evaluation were not suggestive of cardiopulmonary causes. No drugs or toxins exposure. She had icterus and mild splenomegaly. Her total bilirubin was elevated more of indirect bilirubin. Methemoglobin estimation by spectrometry was high 13.7%. HPLC analysis showed unknown peak in the retention in of 4.47 min. Hb A2 values was elevated -4.5%. On DNA sequencing of beta globin gene shown heterozygous point mutation leads to substitution of tyrosine in place of histidine at the codon 93 of Hb B gene. Hence diagnosed as a case of Hb M Hyde Park /HB M akita/Hb M Milwaukee [2]. Her parents and siblings showed no signs of cyanosis and normal HPLC studies. T his has been the second case of Hb M HYDE PARK as fresh mutation reported in INDIA [20].

Keywords: Cyanosis; Methemoglobinl Hemoglobin M; Hb M Hyde Park

Citation

Noorul Ameen A. Hb M- Hyde Park - Rare Hemoglobinopathy in Tamil Nadu. WebLog J Hematol. wjh.2026.c0204. https://doi.org/10.5281/zenodo.19034736