Abstract:
Sickle cell disease (SCD) is an autosomal recessive disease common in negros and Arab.1 The main pathological cause is the substitution of valine with glutamic acid in the β-chain of haemoglobin producing abnormal haemoglobin called haemoglobin S.1,2,3 The production of this abnormal haemoglobin is responsible for the sickling of red blood cells in deoxygenated conditions. The symptoms include chronic intravascular hemolysis, vaso-occlusion and painful crisis.1,3 Over time, multiple organ damage can develop.1,3,4 Patients with SCD display a defective activation of the alternate complement pathway, the combination of SCD and Autoimmune disease (AID) is rare, potentially underdiagnosed, and its prevalence is unknown.4However, the frequency of coexisting SCD and AID has not been evaluated and the data mainly demonstrated from case reports.
Case presentation
In this case, we report a rare combination of Sickle cell anaemia and congenital hypothyroidism in a 4 years old Libyan boy. This patient was referred to our Hematology department due to severe anaemia, the patient was diagnosed with Sickle cell anaemia and congenital Hypothyroidismwhen he was 32 days old. Genetic counselling for the family showed sickle cell anaemia, congenital hypothyroidism and celiac disease in the other family members. However, the association of SCD and congenital hypothyroidism were not reported before, this combination could be due to a new gene mutation since the high consanguinity and multiple affection in siblings with SCD, Celiac disease and Hypothyroidism separately or combined.
Conclusion
SCD and congenital hypothyroidism in toddlers are newly reported in this study. The combination of AID and SCD was detected in many members of this family. Genetic counselling and testing are important in developing countries to educate individuals on SCD and also offer those at risk. Further studies are needed to determine the frequency of congenital hypothyroidism in patients with SCD to look for a new cause of combination.
