Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon

Summary We aimed to investigate the clinical and genetic predictors of painful vaso‐occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio‐demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain‐related genes, three fetal haemoglobin (HbF)‐promoting loci, two kidney dysfunctions‐related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R®. A total of 436 hydoxycarbamide‐ and opioid‐naïve patients were studied; median age was 16 years. Female sex, body mass index, Hb/HbF, blood transfusions, leucocytosis and consultation or hospitalisation rates significantly correlated with VOC. Three pain‐related genes variants correlated with VOC (CACNA2D3‐rs6777055, P = 0·025; DRD2‐rs4274224, P = 0·037; KCNS1‐rs734784, P = 0·01). Five pain‐related genes variants correlated with hospitalisation/consultation rates. (COMT‐rs6269, P = 0·027; FAAH‐rs4141964, P = 0·003; OPRM1‐rs1799971, P = 0·031; ADRB2‐rs1042713; P < 0·001; UGT2B7‐rs7438135, P = 0·037). The 3·7 kb HBA1/HBA2 deletion correlated with increased VOC (P = 0·002). HbF‐promoting loci variants correlated with decreased hospitalisation (BCL11A‐rs4671393, P = 0·026; HBS1L‐MYB‐rs28384513, P = 0·01). APOL1 G1/G2 correlated with increased hospitalisation (P = 0·048). This first study from Africa has provided evidence supp...
Source: British Journal of Haematology - Category: Hematology Authors: Tags: Research Paper Source Type: research