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thalassaemias (Alpha's (4 Alpha genes, 2 on each chromosome 16 (beta…
thalassaemias
Alpha's
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defect in Alpha chain detected erly, possibly in utero, B after birth
4 Alpha genes, 2 on each chromosome 16
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Gamma chains for HbF still formed and keeps synthesising so associate together forming bart's haemoglobin Hby4 (functional)
3 alpha gene deletion - compatible with life, moderately severe anaemia, preence of HbH (b4) reduced life span of red cells
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Beta
3 types - minor 1 chromosome 11 effected, asymptomatic
intermediate - some B chains forming, moderate anaemia
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- deletion - up to 600bp, non-functional
- transcriptional - single base subs in promoter region which reduces B production
- cupriot - point mutation in IVS 1 which creates alternative splicing site
- non functional rna - sub of c by t at codon 39 introduces stop codon into mrna
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