Congenital hypothyroidism in a child with Sickle cell anemia (a Case Report)
DOI:
https://doi.org/10.37375/sjms.v1i2.321الكلمات المفتاحية:
Sickle cell anemia، congenital hypothyroidism، AID، genetic counselingالملخص
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.
المراجع
Li-Thiao-Te et al. Coexistent sickle-cell anemia andautoimmune disease in eight children: pitfalls and challenges Pediatric Rheumatology journal (2018) 16:5DOI 10.1186
Hughes M, Akram Q, Rees DC, Jones AK: Haemoglobinopathies and the rheumatologist. Rheumatology (Oxford), 2016
Manwani D, Frenette PS: Vaso-occlusion in sickle cell disease; pathophysiology and novel targeted therapies. Hematology Am Soc Hematol Educ Program, 2013; 2013: 362–69
Fry CS, Glynn EL, Drummond MJ et al: Blood flow restriction exercise stimulates mTORC1 signaling and muscle protein synthesis in older men. J Appl Physiol, 2010; 108(5): 1199–209
Gallo AM, Wilkie D, Suarez M, Labotka R, Molokie R, Thompson A, et al. Reproductive decisions in people with sickle cell disease or sickle cell trait. West J Nurs Res 2010;32:1073-90.
Maamar M, TaziMezalek Z, Harmouche H, Mounfaloti W, Adnaoui M, Aouni M. Systemic lupus erythematosus associated with sickle-cell disease: a casereport and literature review. J Med Case Rep. 2012;6:366.
jain DL, Sarathi V, Upadhye D, Gulhane R, NadkarniAH, Ghosh K, et al. Newborn screening shows a high incidence of sickle cell anemia in Central India. Hemoglobin 2012;36: 316-22.
Cao A, Rosatelli MC, Monni G, Galanello R. Screening for thalassemia: A model of success. ObstetGynecol Clin North Am 2002;29:305-28, vi-vii
Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 2009;126:247-53.
Anionwu EN, Patel N, Kanji G, Renges H, BrozovicM. Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: A four year experience. J Med Genet 1988;25:769-72
Population Screening Programmes — Guidance Sickle Cell and Thalassaemia Screening: ProgrammeOverview. Available from: https://www.gov.uk/guidance/sickle-cell-andthalassaemia-screening-programme-overview. [Last accessed on 2016 Jan 22].
National Institute for Clinical Excellence. Antenatal Care: Routine Care for the Healthy Pregnant Woman. Clinical Guideline 6. London: RCOG Press; 2003.
Tsianakas V, Calnan M, Atkin K, Dormandy E, Marteau TM. Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: A qualitative study of GPs’ experiences. Br J Gen Pract 2010;60:822-8
Upadhye DS, JainDL, Trivedi YL, Nadkarni AH, Ghosh K, Colah RB. Neonatal screening and the clinical outcome in children with sickle cell disease in central India. PLoS One 2016;11:e0147081.
