Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome.

We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] β haplotype and framework 1 (CCGCT) (FW1).

First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.

The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPɛ is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid differentiation.

rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients.

Aims: Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia (SCA) by inhibiting deoxy sickle hemoglobin (HbS) polymerization. HbF genes are genetically regulated, and the level of HbF and its distribution among sickle erythrocytes is highly variable. Herein, we aimed to determine whether two functional polymorphisms of BCL11A are implicated in the variation of HbF and clinical events in SCA Tunisian patients.

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.

Gilbert syndrome acts as a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients.

Background: As a result of chronic hemolysis, hyperbilirubinemia is often observed, leading to the formation of pigment cholelithiasis which could be busted by the presence of uridine diphosphoglucuronosyltransferase 1A1 defects.

Aim: Herein, we investigated the effect of glibert mutation on the occurrence of pigment cholelithiasis in Tunisian patients with beta (β) hemoglobinopathy including sickle cell anemia and β thalassemia (minor).

Subjects And Methods: Our study included 151 subjects divided in 75 SCA patients and 76 β thalassemia patients.

rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients.

Aims: Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia (SCA) by inhibiting deoxy sickle hemoglobin (HbS) polymerization. HbF genes are genetically regulated, and the level of HbF and its distribution among sickle erythrocytes is highly variable. Herein, we aimed to determine whether two functional polymorphisms of BCL11A are implicated in the variation of HbF and clinical events in SCA Tunisian patients.

[Immunophenotyping of B chronic lymphoproliferative syndromes (CLL excluded): confrontation with the histology].

Immunophenotyping is a major tool for the diagnosis of the chronic lymphoïd leukaemia (CLL). Its interest remains limited in the classification of the other B chronic lymphoproliférative syndromes (B-CLPS). We evaluate the place of the flow cytometry (CMF) in the diagnosis and classification of the non CLL B-CLPS.

Association between rs267196 and rs267201 of BMP6 gene and osteonecrosis among sickle cell aneamia patients.

Aims: The skeletal manifestations of sickle cell disease are the result of changes in bone and bone marrow caused by chronic tissue hypoxia that is exacerbated by episodic occlusion of the microcirculation by the abnormal sickle cells. Furthermore, the occurrence of osteonecrosis is under the control of some modifier gene. BMP6 (Bone morphogenetic protein) has been reported as associated with osteonecrosis in sickle cell anemia (SCA).

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

Background: Immunophenotyping is an essential step in the diagnosis of acute myeloid leukemia. Its prognostic value remains controversial with contradictory results.

Aim: To assess prognostic impact of the immunophenotyping in AML.

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.

We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females).

Treatment of Acute Promyelocytic Leukemia with AIDA Based Regimen. Update of a Tunisian Single Center Study.

In Tunisia, the ATRA era began in 1998 with the use, consecutively, of two regimens combining ATRA and an anthracycline with cytarabine (APL93), and without cytarabine (LPA99). From 2004, 51 patients with confirmed APL either by t(15;17) or PML/RARA were treated according to the PETHEMA LPA 99 trial. Forty three patients achieved CR (86%).

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

Background: 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.

Treatment of acute promyelocytic leukemia with PETHEMA LPA 99 protocol: a Tunisian single center experience.

Acute promyelocytic leukemia (APL) has now become the most curable of all subtypes of acute myeloid leukemia. A cure rate of 75-80% can be anticipated with a combination of all-trans retinoic acid (ATRA) and anthracyclines. In Tunisia, the ATRA era began in 1998 with the use, consecutively, of two regimens of a combination of ATRA with anthracycline and cytarabine (APL93), and without cytarabine (LPA99).

[Thalassemia intermedia: 36 cases].

Background: Thalassemia intermedia empasses a mild clinical and biological spectrum. The aim is to report the clinical and biological features and treatment of this disease.

Methods: It is a retrospective study about 36 thalassemia intermedia patients (17 males, 19 females).

[Soluble tranferrin receptor in the biological diagnosis of iron deficiency. Report of 24 cases].

Background: 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.

Aim: 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.

Methods: Our study concerned 24 patients: 18 patients with iron-deficiency anemia and 6 patients with combined iron-deficiency and inflammatory anemia.

[Splenectomy in hereditary hemolytic anemia: 82 Tunisian cases].

Background: Splenectomy is frequently advised in hereditary hemolytic anemia. Severe complications could occur after splenectomy.

Aim: To provide the indication and benefit of splenectomy

Methods: clinical and biological patterns were performed in a retrospective study of 82 patients: 17 homozygous beta thalassemia, 17 thalassemia intermedia, 33 heterozygote Hb/S beta thalassemia and 15 hereditary spherocytosis.

[Cytology and immunophenotype features of hairy cell leukemia: 6 cases].

Background: Hairy cell leukemia is a rare lymphoproliferative disorder.

Aim: with cytological and immunophenotypic features.

Methods: We report 6 cases of hairy cell leukemia diagnosed in the Biological Department of Hematology at the Aziza Othmana Hospital of Tunis.

[Hemoglobin O Arab: about 20 cases].

Background: Hemoglobin O Arab is a rare abnormal hemoglobin.

Aim: We report the Clinical and biological features of this disease

Methods: 20 patients.:16 were compound hétérozygous Hb O Arab/Béta thalassemia and 4 homozygous Hemoglobin O Arab.

[Hemoglobin C disease: report of 16 Tunisian cases].

Aim: was to provide the clinical and biological patterns hemoglobine disease in Tunisia.

Methods: This retrospective study collected to 16 cases of hemoglobin C disease : 6 homozygotic Hb C and 10 heterozygotic Hb C/beta-thalassemia.

Results: The clinical profile is characterized by mild hemolytic anemia (Hb = 11.

[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, 18 AML5 and 3 AML6 were diagnosed by cytology.

[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/m2 once).