Category Archives: Red cells

Learning outcomes Relate disorders of globin change synthesis to the pathogenesis of thalassaemia and haemoglobin variants Describe the pathogenesis and clinical presentation of beta-thalassaemia Predict the risk of thalassaemia based on the genetic inheritance pattern of beta-thalassaemia List common molecular mutations associated with beta-thalassaemia in Malaysia Appraise the laboratory tests that are commonly used forContinue reading “Beta thalassaemia”

Learning outcomes Relate disorders of globin change synthesis to the pathogenesis of thalassaemia and haemoglobin variants Describe the pathogenesis and clinical presentation of alpha-thalassaemia Predict the risk of thalassaemia based on the genetic inheritance pattern of alpha-thalassaemia List common molecular mutations associated with alpha-thalassaemia in Malaysia Appraise the laboratory tests that are commonly used forContinue reading “Alpha thalassaemia”

Learning outcomes Describe the structure and composition of haemoglobin Explain changes in globin chain synthesis from foetal life to adulthood Regulation of globin synthesis Haemoglobin is a tetramer composed of four polypeptide globin chains with a central heme component within each of the polypeptide. The heme component consists of an organic protoporphyrin ring with a central iron ion in the ferrous stateContinue reading “Globin gene regulation & thalassaemias”

Learning outcomes Explain the role of glucose-6-phosphate dehydrogenase (G6PD) enzyme in protection of red cells from oxidative damage  Describe the genetics, clinical features and laboratory investigation of G6PD deficiency List factors that should be avoided in patients with G6PD deficiency Red cell metabolism Red cells have limited metabolic activity as they do not have nucleiContinue reading “Glucose-6-phosphate dehydrogenase (G6PD) deficiency”

Learning outcomes Describe the life cycle of red cells Describe common clinical features associated with haemolysis Appraise tests that are useful in the evaluation of anaemia secondary to premature destruction of red cells Red cell lifespan and end of life The average red cell has a lifespan of about 120 days. During its lifetime, theContinue reading “Red cell lifespan and haemolysis”

Learning outcomes Explain the biochemistry of B12 in relation to the pathogenesis of megaloblastic anaemia Describe the absorption and transport of B12 List the causes of B12 deficiency Describe unique clinical features associated with B12 deficiency Biochemistry Vitamin B12 or cobalamin is a water soluble vitamin that is essential for cell function. It is the largest andContinue reading “Vitamin B12 deficiency”

Learning outcomes Explain the biochemistry of folate in relation to the pathogenesis of megaloblastic anaemia Describe the absorption and transport of folate List the causes of folate deficiency Biochemistry of folate Folate is an essential water-soluble B vitamin, that consists of a molecule of para-aminobenzoic acid (PABA), with its amino end attached to a pteridine ring, and its carboxyl groupContinue reading “Folate deficiency”

Learning outcomes List the common causes associated with macrocytic anaemia Describe the bone marrow and peripheral blood film features of megaloblastic anaemia Causes of macrocytosis Red cell macrocytosis is defined as the appearance of larger than normal red blood cells in the circulation, characterised by an increase in mean cell volume (MCV), above 100 fl.Continue reading “Megaloblastic anaemia”

Learning outcome Describe the causes, clinical features and laboratory features of iron deficiency anaemia Prevalence and epidemiology Iron deficiency (ID) remains the most common nutritional deficiency worldwide and is estimated to effect nearly 30% of the global population. In Malaysia, about 5% of schoolchildren between the age of 7 to 12 years are iron-deficient. TheContinue reading “Iron deficiency anaemia”

Iron is an essential element for cellular functioning of nearly all prokaryotes and eukaryotes. Humans have evolved to conserve iron, to the extent of hoarding it, as it is scarce in nature and the process of acquiring iron is energy intensive. Although iron is abundant geologically, it often exists as highly insoluble oxides when comingContinue reading “Iron as an essential element”