Sideroblastic anaemia is caused by the defective incorporation of iron into protoporphyrin – the final step in the synthesis of heme. It is an umbrella term, referring to multiple disorders with different etiologies. Some chelators Element Chelator Iron Deferoxamine, Deferasirox…
Iron deficiency is the most common cause of anaemia. Iron is a key component of haemoglobin – each heme molecule has iron in its centre. Iron deficiency causes smaller and poorly haemoglobinized red blood cells to be produced. It is…
Vitamin B12 (cobalamin) deficiency is classically seen in chronic alcoholism, malnutrition, and strict vegetarians. Vitamin B12 is required for folate metabolism, DNA/RNA synthesis, succinyl-CoA synthesis (for haemoglobin), and myelination. Difference between Folate and B12 deficiency Folate deficiency B12 deficiency Peripheral…
Folate deficiency is classically seen in chronic alcohol intake, malnutrition, and people who do not eat vegetables. Folate plays a role in DNA synthesis and single-carbon-unit transfers (e.g., conversion of homocysteine to methionine). Its deficiency leads to ineffective haematopoiesis. Folate…
Macrocytic anaemia is characterised by a low haemoglobin concentration and a high mean corpuscular volume (MCV > 100). It can be classified into megaloblastic and non-megaloblastic types. Classification of macrocytic anaemia Category Causes Megaloblastic anaemia Vitamin B12 deficiency; folate deficiency;…
Overview Sickle cell crises are acute episodes of severe illness that occur in patients with sickle cell disease. These episodes are typically caused by vaso-occlusion, hemolysis or bone marrow suppression. Vaso-occlusive crisis A vaso-occlusive crisis is caused by acute occlusion…
A membranopathy that is caused by a nine-amino acid deletion at the junction of the cytoplasmic and transmembrane domains of the band 3 protein
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by clonal defects in the RBC membrane protein (GPI), which is responsible for inactivating complement. This defect increases activation of complement and intravascular haemolysis.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive condition that is characterized by reduced levels of the antioxidant NADH. This deficiency makes red blood cells susceptible to oxidative stress, causing hemolysis, which can be triggered by certain infections, drugs, and foods.…