Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family suggesting cosegregation of beta-thalassemia minor and bipolar affective disorder was reported. The monogenic hereditary anemia was surveyed over three generations in this family, and three patients with the beta-thalassemia and the bipolar affective disorder were observed over two generations. The localization of a gene responsible for bipolar affective disorder was discussed on the basis of previous reports.
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PMID:Bipolar affective disorder associated with beta-thalassemia minor. 778 63

We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.
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PMID:Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. 1115 97

After a previous paper discussing the possible association between beta-thalassemias and bipolar disorder, this article considers a possible association between alpha-thalassemia and the bipolar disorder. We report the case of a 36 year old woman with bipolar disorder and alpha-thalassemia. The patient, native of Reunion Island, has a family history of bipolar disorder (both parents, one brother, and a paternal uncle). The severity of the bipolar disorder type I in her family, is illustrated by the suicides of both parents, one brother and the paternal uncle, in intervals of only a few years. After a Medline review (1980-2004) we found only two studies suggesting a possible relationship between bipolar disorders and alpha-thalassemias, but without clinical case report information. Some genetic studies described the existence of possible genetic susceptibility for bipolar disorder on the short arm of chromosome 16, close to the gene involved in certain alpha-thalassemias, on the region 16p13.3. An interesting finding is that the sequencing of 258 kb of the chromosome region 16p13.3 not only allowed the identification of genes involved in the alpha-thalassemia and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in polycystic kidney disease, in cataract with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of autism and mental retardation. Numerous clinical descriptions and some familial studies on linkage suggested a possible relationship between tuberous sclerosis, polycystic kidney disease, cataract with microophtalmia, ATR-16 syndrome, asthma, epilepsy, certain forms of autism, mental retardation and bipolar disorder, given the closeness of these vulnerability genes on the short arm of the chromosome 16. A vulnerability gene of alcohol dependence was also identified on this same chromosome region (16p13.3), by a study concerning 105 families. Taking into account the methodological difficulties due to the clinical and genetic heterogeneity of bipolar disorder, we suggest that linkage techniques should be used to confirm the presence of susceptibility genetic factor for bipolar disorders on chromosome 16. Thus a known genetic disease (alpha-thalassemia) could contribute to confirming the presence on the short arm of chromosome 16 of a susceptibility genetic factor for bipolar disorders. Linkage studies should be performed in families with a strong association for both diseases. Thanks to linkage techniques, one could hope for an improvement in understanding the physiopathology of bipolar disorder, with possible implications at a therapeutic level.
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PMID:[Alpha-thalassemias and bipolar disorders: a genetic link?]. 1597 42