Month: October 2022

Sickle cell disease

Introduction Sickle cell disease refers to a group of conditions that are characterised by inheritance of sickle haemoglobin. Sickle cell disease (SCD) is one of the most common inherited disorders. It is caused by inheritance of an abnormal beta globin gene, which leads to sickle haemoglobin. It is classified as one of the haemoglobinopathies. Haemoglobinopathies Haemoglobinopathies refer to a group of genetic diseases that affect the structure of haemoglobin. They can be broadly divided into two types: Haemoglobin variants: mutant forms of haemoglobin that affect its structure. Sickle cell disease is the most recognised. Thalassaemia: reduced or absent globin chain production due

Haemolytic anaemia

Haemolysis refers to the destruction of red blood cells (RBCs), which is broadly defined as a reduction in the life span below 100 days (normal 110-120 days). Haemolytic anaemia is defined as anaemia secondary to reduced survival of RBCs. They have a varied aetiology, as is the clinical presentation; together they represent approximately 5% of all anaemias. Regardless of the underlying cause, if erythropoiesis within the bone marrow cannot keep pace with the destruction of RBCs anaemia will ensue. Mild haemolysis may be completely asymptomatic whereas severe, acute haemolysis will lead to cardiopulmonary decompensation. Classification Haemolytic anaemia can be classified as inherited or aquired. Inherited

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