[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

[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

[Soluble transferrin receptor in the biologial diagnosis of iron deficiency. about 24 cases]

In inflammatory diseases, classical parameters of iron status [serum iron, serum ferritin. total iron-binding capacity of transferrin and transferrin saturation] are not very reliable. The purpose of this study is to investigate soluble transferrin receptor, its index and classical parameters of iron status [serum iron serum ferritin, total iron-binding capacity of transferrin and transferrin saturation] during iron-deficiency anemia and combined iron deficiency and inflammatory anemia. Out study concerned 24 patients: 18 patients with iron-deficiency anemia and 6 patients with combined iron-deficiency and inflammatory anemia, 55 healthy subjects were included as controls. Both groups underwent classical parameters of iron status [serum iron, serum ferritin, total iron-binding capacity of transferrin and transferrin saturation] and measurement of soluble transferrin receptor with its index. In iron-deficiency anemia, total iron-binding capacity of transferrin, soluble transferrin receptor and its index were enhanced, whereas serum iron, ferritinemia and transferrin saturation were low compared so controls. Compared to patients with iron-deficiency anemia, those with combined iron-deficiency and inflammatory anemia showed higher levels of serum iron and ferritinemia. In contrast, soluble transferrin receptor and its index did not vary significantly between both groups. Our findings show the interest of soluble transferrin receptor and its index in the detection of iron deficiency during anemia of inflammatory states

[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

Cytology and immunophenotype feautures of 80 acute myeloid leukemia

Acute myeloid leukemia [AML]'s diagnosis is clinical and biological. We report here 80 AML with cytology and immunophenotype features to establish correlations. 21 AML1, 23 AML2, 12 AML3, 2 AML4, 18AML5 and 3 AML6 were diagnosed by cytology. Only one case of AMLO was diagnosed by immunophenotype. Myelogysplasia is present in 29,8% cases. CD 19 and CD56 expression was significantly associated to AML +t[8;21]. Additionally, concomitant negativity of CD34 and HLA-DR was dis-crimininatif to AML3 diagnosis. Prognostic value to expression some CD needs time backwards

Haematological and molecular aspects of hemoglobinosis H: about three Tunisian cases

Hemoglobinosis H is the severest alpha-thalassemia compatible with life. The clinical manifestation seems to be different regarding to the genotype. The present paper aims to provide to hematological and molecular data related to three patients suffering from hemoglobinosis H alpha thalassemia and their family. The clinical and biological profiles appear to be similar to those observed in thalassemia intermedia with mild hemolytic microcytic anemia. The diagnosis was based on decreased Hb A2 level [< 2%] and the presence of Hb H at an amount ranging from 10 to 30%. Two different molecular defects were observed. The genotypes were an association of two types of deletion [--MEDI an alpha [3.7]] and two point mutations [alpha[snt] and alpha t], The correlation phenotype / genotype showed that non-deletional Hb H is more severe than deletional forms. Detection of athalassemia trait remains difficult, it's detection is yet a matter of exclusion diagnosis based on the observation of isolated microcytosis with normal or limited Hb A2 levels with a normal iron state. Molecular study is a powerful tool for the diagnosis of such alpha cases

[Alpha interferon in children with philadelphia chromosome-positive chronic myeloid-leukaemia]

The present work focuses on the therapeutic efficacy and the toxicity of alpha interferon in patients younger than age 18 years. 5 patients younger than 18 years were treated and followed up between 1990 and 1999 at the department of haematology [Aziza Othmana Hospital] Hydroxyurea was given as initial treatment to all patients. After a median period of 8 months. these patients received alpha interferon [5 millions units/m 2 once]. Six months after the beginning of the alpha interferon a complete hematologic response was obtained in all patients. The median overall survival was of 66 months: 3 patients are still alive [2 patients in an advanced stage and one patient in chronic phase] and 2 patients died after transformation. The most common reported side effects of alpha interferon were asthenia, weight loss, fever, myalgia, chills and headaches - these toxic manifestations were mild and were noticed in all our patients. MyeIosuppression was noted in two patients. Interferon is well tolerated in patients younger than age years 18 old, with CML.It may offer an alternative to bone marrow transplantation in children in the chronic phase of CML without histocompatible donor. The role of new agents such as STI 571 needs to be evaluated as well

[Long term survival and prognostic factors in multiple myeloma treated with conventional chemotherapy. About 109 cases]

Our study is retrospective. We report the results of conventional chemotherapy in previosly untreated patients with myeloma. Survival and progonstic factors were analysed in 109 patients diagnosed from 1983 to 1992. The median age was 65 years, 87 patients [80%] were including in the stage III according the Durie Salmon staging system. The median survival time was 27 months and 10 years survival rate is 3,66%. In the univariate analysis, two prognostic variables were retained namely the hemoglobin and creatinine level. The study suggest that conventional therapy is agood treatment for old patients. However, patients younger than 55 years, must benefit from intensive chemotherapy supported by autologus bone marrow, pheripherol blood stem cells, or allogenic bone marrow transplantation. A considerable encrace in duration of remission and survival is possible