title: Haemoglobin sickle D disease: A presentation with ischaemic stroke.
abstract: Haemoglobin-D, Los Angeles or Haemoglobin D-Punjab is not a rare variant of haemoglobin worldwide especially in Punjab, North western India, and South Asian continent. It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology. However, these variants can co-exist rarely with other haemoglobinopathies such as thalassemia or haemoglobin-S. We describe the case of doubly heterozygous Hb-SD Punjab in a 8 year old girl who presented with ischaemic stroke. Before this case, only one case has been reported but it was with reversible hyperbilirubinaemia in Hb-SD from Rawalpindi, Pakistan. This case images the propensity for occurrence of rare phenotype within our population and underlines the importance of genotyping to avoid erroneous management and poor counseling hence preventing life altering complications which our case developed.
authors.affiliation: Medical Intensive Care Unit, Patel Hospital, Karachi.
authors.forename: Hasnain
authors.initials: H
authors.lastname: Afzal
authors.affiliation: Medical Intensive Care Unit, Patel Hospital, Karachi.
authors.forename: Syed Farrukh
authors.initials: SF
authors.lastname: Umair
mesh_terms: D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D001797:Blood Protein Electrophoresis; D002545:Brain Ischemia / Q000000981:diagnostic imaging* / Q000209:etiology; D002648:Child; D002851:Chromatography, High Pressure Liquid; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006451:Hemoglobin, Sickle; D006453:Hemoglobinopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006801:Humans; D020521:Stroke / Q000000981:diagnostic imaging* / Q000209:etiology
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab
keywords: Haemoglobinopathies, Haemoglobin Sickle SD-Punjab, Ischemic stroke.