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Sickle cell disease: Difference between revisions
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(Created page with "'''Sickle cell disease''' is a group of inherited RBC disorders, and the most common intrinsic haemolytic anaemia, i.e. the most common cause of haemolytic anaemia due to intrinsic defects of the RBCs. It’s most common in African and Mediterranean populations. It’s caused by a point mutation in the beta globin gene causes haemoglobin to precipitate into a sickle-shape when deoxygenized, which gives the name. This leads to microvascular occlusion and haemolysis....") |
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'''Sickle cell disease''' is a group of inherited RBC disorders, and the most common intrinsic [[haemolytic anaemia]], i.e. the most common cause of haemolytic anaemia due to intrinsic defects of the RBCs. It’s most common in African and Mediterranean populations. | <section begin="clinical biochemistry" />'''Sickle cell disease''' is a group of inherited RBC disorders, and the most common intrinsic [[haemolytic anaemia]], i.e. the most common cause of haemolytic anaemia due to intrinsic defects of the RBCs. It’s most common in African and Mediterranean populations. | ||
It’s caused by a point mutation in the beta globin gene causes haemoglobin to precipitate into a sickle-shape when deoxygenized, which gives the name. This leads to microvascular occlusion and haemolysis. There are multiple types with varying severity. The most severe form of sickle cell disease (HbSS) is called '''sickle cell anaemia'''. | It’s caused by a point mutation in the beta globin gene causes haemoglobin to precipitate into a sickle-shape when deoxygenized, which gives the name. This leads to microvascular occlusion and haemolysis. There are multiple types with varying severity. The most severe form of sickle cell disease (HbSS) is called '''sickle cell anaemia'''.<section end="clinical biochemistry" /> | ||
Sickle cell anaemia causes moderately severe anaemia with clinically detectable jaundice due to haemolysis. It also causes hyposplenism, which leads to increased susceptibility to severe infections by encapsulated bacteria, like osteomyelitis and sepsis. | Sickle cell anaemia causes moderately severe anaemia with clinically detectable jaundice due to haemolysis. It also causes hyposplenism, which leads to increased susceptibility to severe infections by encapsulated bacteria, like osteomyelitis and sepsis. | ||
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Due to chronic microinfarctions of the spleen these patients lose splenic function early (hyposplenism). This makes them more susceptible to infections by encapsulated bacteria, like S. pneumoniae, H. influenzae and salmonella. Chronic microinfarctions also cause chronic pain and can cause infarction of virtually any organ. | Due to chronic microinfarctions of the spleen these patients lose splenic function early (hyposplenism). This makes them more susceptible to infections by encapsulated bacteria, like S. pneumoniae, H. influenzae and salmonella. Chronic microinfarctions also cause chronic pain and can cause infarction of virtually any organ. | ||
<section begin="clinical biochemistry" /> | |||
== Diagnosis and evaluation == | == Diagnosis and evaluation == | ||
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** Howell-Jolly bodies | ** Howell-Jolly bodies | ||
* [[Haemoglobin electrophoresis]] – for confirmation of diagnosis | * [[Haemoglobin electrophoresis]] – for confirmation of diagnosis | ||
<section end="clinical biochemistry" /> | |||
== Treatment == | == Treatment == | ||