Borras, Laurence

Constant, Eric-Louis

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Depression and beta-thalassemia:a genetic link?To the Editor:Beta-thalassemia is one of the most preva-lent monogenic illnesses in the world. It iscausedbymutations in the beta chainof thehemoglobin molecule. Genetic studies sug-gest an important genetic factor in theetiology of depressive disorders. Severalcandidate genes, most notably the genesituated on chromosome 11, proximal tothe genes involved in beta-thalassemia, arepotentially involved in the development ofdepressive disorders in predisposed indi-viduals (1). In reporting a case in whichrecurrent depression and thalassemiaminor (heterozygous beta-thalassemia)occurred simultaneously in several mem-bers of a family, one can suggest theexistenceofagenetic linkbetween these twodisorders. The patient gave her consent forthis report to be published.Ms A, a 38-year-old Caucasian woman,native fromBelgium, had an 8-year historyof recurrent major depressive disorderwithout psychotic symptoms (DSM-IV).She was hospitalized three times fordepressive episodes. The patient hada family history of recurrent majordepression involving two generations(father and two paternal uncles). A mildanemia was diagnosed during her firsthospitalization at the age of 30 as thalas-semia minor following DNA analysis. Thefour family members (including thepatient) and her son aged 15 had thalasse-mia minor. They all fulfilled the ResearchDiagnosis Criteria for recurrent majordepression except her son who was in goodmental health. Other family members hadno psychiatric or somatic diseases.Depression in Ms A is unlikely to beattributable to psychosocial consequencesof thalassemia minor as the disease hadlittle clinical effect on her and othermembers of her family.Depression is the most frequent psychi-atric disorder in the community, and itslifetime prevalence inmen andwomen is 13and 21%, respectively (2). Several linkagestudies suggest that genetic componentsmay contribute to the development ofdepressive disorders (1). However, theidentification of these genetic factors en-counters several obstacles: the complexinteractions between physiological, psy-chological andenvironmental elements; theclinical heterogeneity of depressive disor-ders; and the presence of phenocopies (3).Several studies reveal, however, that bythe sequencing of chromosome 11, a possi-ble genetic susceptibility for depression canbe located on the short arm of thischromosome near the gene involved inbeta-thalassemia (11p15). In fact, one ofthe human tryptophan hydroxylase genes(TPH1), the rate-limiting enzyme in sero-tonin biosynthesis, is implicated in depres-sive disorders andcanbe foundon the shortarm of chromosome 11 (11p14-p15.3) (4).No study has yet been done to examinethe prevalence of beta-thalassemia inpatients with depressive disorders, but anestimate based on the prevalence of eachdisorder (13–21% depression and ,1%beta-thalassemia northern Europeanpopulations) suggests that the possibilityof observing both disorders in multipleindividuals in two families is rare, thusproviding tentative support for a possiblegenetic link between the two disorders.A review of literature revealed no reportsof possible genetic relationship betweenthalassemia minor and depressive disor-ders. To our knowledge, our case study isthe first report that discusses a possibleassociation between these two disorders.In conclusion, genetic studies havedescribed the existence of a genetic suscep-tibility factor for depressivedisorders on theshort arm of chromosome 11, near to thegene involved in beta-thalassemia.We havedescribed a case report so as to highlighta possible genetic link between these twopathologies.A known genetic disease (beta-thalassemia) can help to confirm thepresence, on the short arm of chromosome11, of a genetic susceptibility factor fordepression. Linkage studies should beperformed in families with a strong associ-ation of both diseases in order to improveour understanding of the physiopathologyof depressive disorders, along with possibletherapeutic implications.Laurence Borras1,Eric-Louis Constant21Department of Psychiatry, Division of Adult Psychiatry,University Hospitals of Geneva, 1207 Geneva,Switzerland; and 2Department of Psychiatry,Saint-Luc University Hospitals of Brussels,Brussels, BelgiumLaurence Borras, MD, Department ofPsychiatry, Division of Adult Psychiatry,University Hospital of Geneva,Consultation Secteur Eaux-Vives,36 Rue du XXXI De´cembre,1207 Geneva, Switzerland.Tel: 14122 382 31 03;Fax: 14122 382 31 05;E-mail: laurence.borras@hcuge.chActa Neuropsychiatrica 2007: 19:134 2007 The AuthorsJournal compilation  2007 BlackwellMunksgaardDOI: 10.1111/j.1601-5215.2006.00180.xReferences1. SOLBERG LC, BAUM AE, AHMADIYEH N et al.Sex- and lineage-specific inheritance ofdepression-like behavior in the rat. MammGenome 2004;15:648–62.2. ROUILLON F. Anxiety with depression:a treatment need. Eur Neuropsycho-pharmacol 1999;9:87–92.3. DAMSA C, BORRAS L, BIANCHI-DEMICHELI F,ANDREOLI A. Alpha-thalasse´mies et troublesbipolaires: revue de la litte´rature a` partir d’uncas clinique. L’Ence´phale 2005;31:72–75.4. NIELSEN DA, VIRKKUNEN M, LAPPALAINEN Jet al. A tryptophan hydroxylase genemarkerfor suicidality and alcoholism. Arch GenPsychiatry 1998;55:593–602.134https:/www.cambridge.org/core/terms. https://doi.org/10.1111/j.1601-5215.2006.00180.xDownloaded from https:/www.cambridge.org/core. University of Basel Library, on 30 May 2017 at 21:15:03, subject to the Cambridge Core terms of use, available at

Depression and beta-thalassemia: a genetic link?

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