Hb-M Hyde Park: a rare cause of cyanosis arising from a de novo mutation

First reported case of Haemoglobin-M Hyde Park in a Malay family living in Malaysia

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 patien...

Methaemoglobinaemia after cardiac catheterisation: a rare cause of cyanosis.

Two young women had unexpected cyanosis a few hours after cardiac catheterisation for electrophysiological investigation. The first patient had atrioventricular septal defect, had undergone repeated surgical interventions, and was referred because of atrial flutter. The second patient had ablation of an accessory pathway in Wolff-Parkinson-White syndrome. Local anaesthesia was performed with 40...

Osteopoikilosis: a rare cause of bone pain

 Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia an...

Translocation Mongolism Arising de Novo?

Three families with ‘de novo’ m.3243A > G mutation

The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues usin...