Analyse de la genealogie de malades atteints de thrombasthenie de Glanzmann du sud Tunisien: a propos de 17 cas [11 familles]

GIanzmann's thrombasthenia [GT] is a rare congenital thrombopathy, with a recessive autosomal transmission. we present here the genetic study of a series of patients suffering from GT. Patients and This is a retrospective study about all the GT patients treated in Sfax hematology department during 18 years. Final diagnosis was established by agregometry. Genetic study was based on clinical history. 17 cases of GT from 11 families from the south of Tunisia were collected. The disease was particularly frequent in the region of Moulares-Gafsa [7 patients]. The percentage of consanguinity was also very high [82%], with a third degree consanguinity of 86%. Family investigation revealed 6 previously unknown cases, and 10 deaths subsequent to hemorrhagic manifestations. The high rate of consanguinity, the absence of clinical or biological manifestations in the parents, and the ratio of ill to normal subjects in the same family which was about one to four, are suggestive of an autosomal recessive mode of transmission

[Gaucher's disease uncovered late about two patients]

Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase. This disease is usually diagnosed in the first or second decade of life with the arising of bone pains, splenomegaly and hemorragic manifestations due to thrombocytopenia. When the enlarged spleen is not evident, or after splenectomy, patients may be mis-identified as having Gaucher's disease. We present here two cases of elderly patients aged 70 and 46 years respectively, in whom the disease was a surprising finding of bone marrow examination, during check up for pancytopenia