title: First reported case of Haemoglobin-M Hyde Park in a Malay family living in Malaysia.
abstract: Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patients manifest as cyanosis clinically. A 9-year-old Malay girl was incidentally found to be cyanotic when she presented to a health clinic. Laboratory investigations revealed raised methaemoglobin levels and Hb analysis findings were consistent with Hb-M Hyde Park. β gene sequencing confirmed a point mutation of CAC>TAC on codon 92 in one of the β genes. The family study done on the individuals with cyanosis showed similar findings. A diagnosis of heterozygous Hb-M Hyde Park was made. Patients with this variant Hb usually presented with cyanosis with mild haemolysis and maybe misdiagnosed as congenital heart disease. No further treatment is needed as patients are relatively asymptomatic. Although the disease is harmless in the heterozygous carriers but the offspring of the carriers may suffer severe haemolytic anaemia when the offspring also inherit other β haemoglobinopathies/thalassemia. This can happen due to high prevalence of β thalassemia carrier (3.5-4 %) found in Malaysia. At the time of writing, this is the first case of hereditary Hb-M Hyde Park diagnosed in a Malay family living in Malaysia.
authors.affiliation: Department of Pathology, UKM Medical Centre, Malaysia.
authors.forename: Tang Yee
authors.initials: TY
authors.lastname: Loong
authors.affiliation: Department of Paediatric, UKM Medical Centre, Malaysia.
authors.forename: Doris Lau Sie
authors.initials: DL
authors.lastname: Chong
authors.affiliation: UKM Medical Molecular Biology Institute, Malaysia.
authors.forename: A Rahman A
authors.initials: AR
authors.lastname: Jamal
authors.affiliation: UKM Medical Molecular Biology Institute, Malaysia.
authors.forename: Nor Azian Abdul
authors.initials: NA
authors.lastname: Murad
authors.affiliation: Department of Pathology, UKM Medical Centre, Malaysia.
authors.forename: Raja Zahratul Azma Raja
authors.initials: RZ
authors.lastname: Sabudin
authors.affiliation: Department of Pathology, UKM Medical Centre, Malaysia.
authors.forename: Leong Chooi
authors.initials: LC
authors.lastname: Fun
keywords: Hb-M Akita; Hb-M Hyde Park; cyanosis; ferric; methaemoglobin