[Monocentric study of Willebrand's disease in Tunisia: assets and difficulties]

Background: Von Willebrand's disease [VWD] is the most commonly inherited bleeding disorder. It is characterized by clinical, biological and molecular heterogeneity. In certain types of the disease, diagnosis can be difficult

Aim:We report the clinico-biological characteristics of VWD's patients and analyze diagnosis difficulties

Methods:33 cases were diagnosed in the laboratoryfrom February to May, 2011. Screening hemostasis included the measuring of FVIII: C, VWF: Ag and VWF: RCo. Blood cell count and blood group were performed in all cases

Results: Mean age at diagnosis is 13 years [10 months -43 years]. The sex ratio M/F is 0.5. The patients are classified type 3 VWD in 52% of the cases, type 2 VWD in 30% of the cases and type 1 VWD in 18% of the cases. The diagnosis of type 2B VWD suspected in combination of the ratio VWF:RCo / VWF: Ag <0,7 and thrombocytopenia in one case. Required tests for positive diagnosis and distinction between the primary categories of VWD are available. Specialized tests will allow a best characterization variants type 2 VWD for a better therapeutic approach

[Immunophenotyping in adult acute myeloid leukemia: which prognostic value?]

Immunophenotyping is an essential step in the diagnosis of acute myeloid leukemia. Its prognostic value remains controversial with contradictory results. To assess prognostic impact of the immunophenotyping in AML. Our study is retrospective [October, 2005 - July, 2007] concerning 56 cases of AML [AML3 excluded] of the adult from 18 to 55 years old diagnosed and treated in Tunis Aziza Othmana Hospital. The immunophenotyping was performed by flow cytometry [Beckman Coulter EPICS XL MCL [registered sign]. We studied clinical and biological characteristic, immunophenotypic expressions, and parameters of the response to the treatment: complete remission [CR], overall survival [OS], relapse free survival [RFS] and relapse in a delay of 1 year and 2 years. SPSS software was used to perform the statistical analysis. The median age of the patients is of 37.7 +/- 11.8 years. Sex-ratio [M/F] is 1.33. Among individual antigenic expressions, only CD7 is associated to lower CR rates [p=0.044]. We did not find any statistically significant association between immunophenotypic expressions and OS nor with relapse or RFS. The impact of immunophenotyping in AML remains controversial because of contradictory results. The research of molecular changes would be an interesting alternative in our context

[Iron overload in sickle cell anemia: a study of 94 patients]

Sickle cell disease is an autosomal, recessive hemoglobinopathy characterized by hemolytic anemia. Red blood cell transfusions are uncommon therapeutic mainstay in sickle cell disease and repeated transfusions can result in iron overload. The predicted risks of iron overload and organ failure increase with both the duration of disease requiring transfusion therapy and the number of transfusions. To assess the state of iron overload in patients with sickle cell anemia according to their number of transfusions. The medical records of 94 patients with sickle cell anemia [46 had homozygous sickle cell disease, 41 had sickle-beta thalassemia, 7 had compound heterozygous hemoglobin: 4 SC and 3 SOArab] were retrospectively reviewed for the following: clinical exam, serum ferritin level, liver function tests, abdominal ultrasound exam and heart Doppler. 61% of our patients are from the Northern- west of the country. The average age is 18.29 years [2 to 62 years] and the sexratio is 0.62. In addition to parental consanguinity which is found in 28.72% of the cases. The average level of ferritin is 660.35 ng/ml. 41.5% of the patients have a high status of ferritin witch ranged from 521.4 to 3360 ng/ml. There is not a significant difference of ferritin level according to age, sex and a phenotype of sickle cell anemia. However, it is higher among the transfused patients with a same phenotype [p<0.05]. We found a correlation between serum ferritin levels and the number of transfusions [r =+0.74]. Splenectomy has a preventive role because it allowed stopping the transfusion in 65% of the cases. The evaluation of organ dysfunction has found a hepatomegaly in 29% of the cases, half of witch were have a high status of serumferritin [> 1000 ng/ml]. Left ventricular hypertrophy associated to valvulopathy was classified in 10% of the cases. Iron overload in sickle cell anemia, though relying on transfusion, remains moderate. The repetitive assessment of serum ferritin level is considered as the best test though it does not evaluate an organic dysfunction. To evaluate them better, other tests are requiring: magnetic resonance imaging and Tc-Squid biosusceptometers

[Beta thalassemia intermedia: about 36 cases]

Thalassemia intermedia empasses a mild clinical and biological spectrum. The aim is to report the clinical and biological features and treatment of this disease. It is a retrospective study about 36 thalassemia intermedia patients [17 males, 19 females]. Epidemiological, haematological aspects and treatment were reported. The diagnosis was carried out at a relatively old age 15 years [1-72].The thalassemia intermedia was characterized by mild facial deformities, splenomegaly and moderate anemia [Hb=9.1 g/dl]. The mean serum ferritin was 518 ng/ml [25-1800].Three phenotypes are caracterised: heterozygosis beta thalassemia, beta° thalassemia and beta° thalassemia. Clinical complications were hypersplenism, extra medullary hematopoiesis, leg ulcers, thrombosis and pulmonary hypertension. Treatment was based on occasionally transfusion and splenectomy on event of hypersplenious [47%]. Evolution of this disease was generally good with a long lifespan at 31 years [6-83]. Thalassemia intermedia is well tolerated. Transfusions and splenectomy were indicated in case of hypersplenious

[Splenectomy in hereditary hemolytic anemia: 82 Tunisian cases]

Splenectomy is frequently advised in hereditary hemolytic anemia.Severe complications could occur after splenectomy. To provide the indication and benefit of splenectomy clinical and biological patterns were performed in a retrospective study of 82 patients: 17 homozygous beta thalassemia, 17 thalassemia intermedia, 33 heterozygote HbS I beta thalassemia and 15 hereditary spherocytosis. Splenectomy was performed for: Hypertransfusion in homozygous thalassemia, hereditary spherocytosis; hypersplenism in Thalassemia intermedia and splenic sequestration in heterozygote HbS/beta thalassemia.The benefit of splenectomy was proved in hereditary spherocytosis [100%], heterozygote HbS/beta thalassemia [90%] and thalassemia intermedia [75%];nevertheless in homozygous beta thalassemia.Post splenectomical complication are often thrombocytosis, thrombosis and infections. Splenectomy should be performed in hereditary hemolytic anemia to reduce and avoid transfusion

[Cytology and immunophenotype features of hairy cell leukeamia: about 6 cases]

Hairy cell leukemia is a rare lymphoproliferative disorder. With cytological and immunophenotypic features. We report 6 cases of hairy cell leukemia diagnosed in the Biological Department of Hematology at the Aziza Othmana Hospital of Tunis. Hairy cells was observed in blood smears of 5 cases. Flow cytometry analysis shown a monoclonal population B while gatinting on the expression of the CD19 and SSC signal. The positivity of the CD 103 is noted in 5 cases and the CD11c signal is intense in all the cases. Immunophenotype is of great interest in the diagnosis of hairy cell leukemia

[Hemoglobin O Arab: about 20 cases]

Hemoglobin O Arab is a rare abnormal hemoglobin. We report the Clinical and biological features of this disease 20 patients: 16 were compound heterozygous Hb O Arab/Beta thalassemia and 4 homozygous Hemoglobin O Arab. Patients are 7 men and 13 women. Most of them are originated from the North West of Tunisia with a age average of 39. 7 years. Diagnosis was carried out at a relatively old age [26. 9 years old]. The homozygous form was not very symptomatic. The compound heterozygous form was more severe and characterized by a mild form of thalassemia with a moderate microcytic hypochromic anaemia [Hb =8. 8 g/dl]. It was often complicated of thrombopenia due to hypersplenism in 40% of the cases. Treatment was based on occasionally transfusion and splenectomy on event of hypersplenism. Evolution of this disease was generally good with a long lifespan of patients. Haemoglobin O Arab is an abnormal hemoglobin well tolerated except for heterozygous category which requires iterative transfusions. Spelenectomy is indicated in case of hypersplenism. The evolution is generally good with a long survival