Day: October 4, 2022

G6PD deficiency

Overview Glucose-6-phosphate dehydrogenase deficiency is an X-linked inherited disorder that predisposes to haemolytic anaemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the inherited haemolytic anaemias. It is an X-linked inherited disorder due to a genetic variant (i.e. mutation) in the gene that encodes the protein G6PD located on the long arm of the X chromosome. G6PD is needed for the formation of nicotinamide adenine dinucleotide phosphate (NADPH) that is used to maintain stores of glutathione in red blood cells that has a crucial role in preventing oxidative damage. The condition is usually asymptomatic but characterised by episodes of anaemia due to haemolysis

Anaemia overview

Definition The World Health Organisation (WHO) defines anaemia by the following haemoglobin (Hb) concentrations: Males < 130 g/L (130-175 g/L) Females < 120 g/L (120-155 g/L)* World Health Organization WHO * In pregnancy, a Hb < 110 g/L is diagnostic. Strictly speaking, anaemia is defined as a reduction in circulating red blood cell mass. However, in clinical practice, anaemia is defined by more measurable variables such as: Red blood cell (RBC) count Haemoglobin (Hb) concentration Haematocrit Hb concentration is commonly used in the assessment of anaemia.​ It is important to understand that anaemia is a manifestation of an underlying problem, not a diagnosis in