OBSESSIVE–COMPULSIVE DISORDER (OCD) is a common mental illness with 2–3% lifetime prevalence. OCD has a strong genetic basis, but specific genes have not been identified.1β-Thalassemia and sickle cell anemia (SCA) are rare monogenic hereditary disorders caused by mutations in the β-globin gene located on 11p15.5. Sickle β-thalassemia (SBT) is a compound heterozygous form of the disorder with both mutations.2 We report a rare case of familial OCD with SBT. The patient gave informed consent to publish this report.

An 18-year-old south Indian man presented with 4-year illness characterized by obsessions of symmetry, need for perfection with repeating, ordering, blinking and staring compulsions. He was diagnosed as having OCD according to DSM-IV criteria. He had a family history of tic disorder (TD) in his father and OCD in a male second-degree relative. At the age of 6 he was diagnosed with SBT, for which he had received approximately 400 blood transfusions till date. Hemoglobin (Hb) variant analysis (HbF-33.6, HbA2-5.5 and HbS-57.8) and molecular testing (compound heterozygous for codon 15 (G [RIGHTWARDS ARROW] A) and codon 6 (A [RIGHTWARDS ARROW] T) mutation in β-globin gene) confirmed SBT. His father was heterozygous for HbS (HbF-1.3, HbA2-3.2 and HbS-57.8) at codon 6 (A [RIGHTWARDS ARROW] T). His mother was heterozygous for β-thalassemia (HbF-2.1, HbA2-5.2 and HbS-0) at codon 15(G [RIGHTWARDS ARROW] A). They were both asymptomatic. He went into remission on escitalopram 30 mg and clomipramine 100 mg over a period of 3 years follow-up.

To the best of our knowledge, this is the first report of OCD comorbid with SBT. In addition, there was a family history of OCD and TD in this particular case. In a recent study that examined psychiatric comorbidity in a group of children with β-thalassemia, OCD was found in 15% of the sample.3 One study in young adults with β-thalassemia found personality characterized by OC traits, somatization and depression.4 There are no reports of comorbidity between SCA and OCD.

β-Thalassemia and SCA are caused by specific mutations in the β-globin gene located at 11p15.5.2 Familial clustering of OC spectrum disorders (OCD and TD) and β-globin gene-related disorders in the present patient's family suggests a possible genetic link. Two putative candidate genes for OCD (DRD4 and BDNF) are located at 11p15.5.1 This area has also been implicated in the OCD Collaborative Genetics Study linkage analysis.5


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