Definition & Etiology
Definition
Autosomal recessive haemoglobinopathy: abnormal beta chain causing erythrocyte deformation = sickle shape!
o Can lead to clusters developing:
- Blocks blood vv
- Damages large & small vv
- Sequestration in liver & spleen
- Intense pain: sickle cell crisis
- Anaemia (intracapsular haemolysis result of haemoglobinopathy like thalassemia: ÝHeme ÝGlobin Ý LDH Ý Reticulocytes ß Haptoglobin) Type of haemoglobinopathy similar to thalassemia
Prevalence
1 in 2000 births
High prevalence in Black African and Afro-Caribbean communities
Etiology
Genetic inheritance requiring 2 recessive alleles (HBSS)
Carrier state: HBAS (single allele)
Severe form: HBS with beta-0 thalassemia