Peripheral blood stem cell transplantation in children with beta-thalassemia.

Fifteen patients with beta-thalassemia received an allogeneic peripheral blood stem cell transplant. Median age was 3.5 years (1-15 years). Six were class I, four class II and five class III according to the Pesaro criteria. All of the donors were HLA-phenotypically identical (13 siblings and two parents). Nine patients were given BU + CY and six BU + CY plus ATG as conditioning. All patients received MTX (+1, +3, +6) and CsA (9-12 months) post transplant for GVHD prophylaxis. The median neutrophil and platelet engraftment times were day 12 and day 16, respectively. cGVHD was observed in three patients. Two patients died. Thirteen patients are well, and transfusion-independent 2-30 months after PSCT. No recurrences of thalassemia have been seen. Overall and event-free survival were 86.6%. In conclusion, we suggest that PSCT can be considered a safe and effective treatment for children with beta- thalassemia.

Failure of granulocyte colony-stimulating factor and granulocyte-macrophage colony-stimulating factor in a patient with Kostmann syndrome.

We present a seven-month-old boy referred to our hospital with a history of recurrent suppurative infections starting in his neonatal period. Anemia, absolute neutropenia absolute neutrophil count (ANC: 500 cells/microl), pneumonia, purulent otitis media and maturational arrest of granulocytes at promyelocyte-myelocyte level in bone marrow were detected on his admission. He was diagnosed as Kostmann syndrome and recombinant human granulocyte colony-stimulating factor (rhG-CSF) therapy was started at a dose of 10 microg/kg/d, gradually increasing up to 120 microg/kg/d in sequential seven-day courses. As there was no response, rhG-CSF was stopped and recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) was started subcutaneously with 2.5 microg/kg/d and was escalated by doubling the dose every seven days to 20 mg/kg/d. By this therapy absolute neutrophil count (ANC) transiently reached above 500 cells/microl, but eosinophilia developed with a total white cell count of 88.200 cells/microl, and a differential count showing 86 percent eosinophils. Since eosinophilia of this magnitude has deleterious effects, and neutrophil production did not significantly increase, we tried combined therapy with rhG-CSF and rhGM-CSF at doses of 10-20 microg/kg/d and 5-10 microg/kg/d, respectively, without any effect on absolute neutrophil count. The patient succumbed from sepsis eight months after the diagnosis.

Interferon-alpha therapy for refractory idiopathic thrombocytopenic purpura in children.

Interferon (IFN)-alpha therapy was presented as a possible treatment for refractory immune thrombocytopenic purpura (ITP). We used 3 x 10(6) U recombinant IFN alpha, subcutaneously three times a week, every other day, for a total of 12 doses, in five children with refractory ITP. Three patients showed no response and were classified with Type III. One patient gave a partial response, and the other one had been in remission for 71 weeks as of this writing. This is the longest remission period reported for IFN therapy. The patients were classified Types IIb and I, respectively. The therapy was well tolerated. We conclude that further studies are to needed evaluate IFN-alpha therapy in childhood ITP.

Bernard-Soulier syndrome: a flow cytometric analysis of membrane GP-Ib expression.

A case of Bernard-Soulier syndrome in a five-year-old female is presented. The diagnosis was confirmed by flow cytometric analysis of glycoprotein Ib (CD 42b) in addition to the patient's classic laboratory findings such as prolonged bleeding time, mild thrombocytopenia, large platelets and failure of platelet aggregation with ristocetin. Her parents and sibling had normal coagulation tests and CD 42b levels. It is emphasized that flow cytometric analysis is useful in the confirmation of congenital platelet function defects.

Monosomy 7 myelodysplasia in childhood. Two case reports.

Monosomy 7 myelodysplasia is a rare hematological entity and is associated with morphological abnormalities in bone marrow and peripheral smear, and poor prognosis in children. We describe 2 children with infantile monosomy 7 myelodysplasia which evolved to leukemia. One of them died after 1 month, and the other is still on therapy for acute myelocytic leukemia (M4) which has evolved from chronic myelomonocytic leukemia. We concluded that chromosomal analysis must be done routinely in patients with myelodysplasia, in acute myeloid leukemia and chronic myelomonocytic leukemia.

Growth and sexual maturation in children with thalassemia major.

BACKGROUND AND METHODS. Growth and endocrine disturbances are still important problems for patients with thalassemia major, which is a major health problem in southern part of Turkey. In the present study 71 thalassemia major patients over 3 years of age were evaluated for physical and sexual maturation status. RESULTS AND CONCLUSION. Twenty-three patients (32.4%) were below the third centile for height. Growth retardation was more pronounced in patients 10 years of age and up according to height and weight standard deviation scores (SDS). Delay in bone age SDS was found in almost all patients, and 74.5% of our patients over 12 years of age had not yet entered puberty. These results show that growth and endocrine disturbances have significant negative effects in the quality of life of thalassemic patients. More detailed studies will help to solve these problems.

A case of juvenile chronic myeloid leukemia with XX/XXX mosaicism.

Cytogenetic abnormalities are rarely found in patients with juvenile chronic myelogenous leukemia (JCML). In patients with chromosomal abnormalities, chromosomes 7 and 8 are usually involved. A case of JCML with 47 XXX and a 46 XX karyotype is described and the literature is reviewed. To our knowledge, this is the first case ever to have been reported.

Standard and low birth weight formulas compared for effects on growth of preterm infants.

The study population consisted of 22 infants hospitalized for low birth weight or prematurity at the Maternity and Children's Hospital in Samsun. Eleven infants were fed the low birth weight formula and the rest were fed the standard formula. Weight gain, increases in length and occipitofrontal circumference were higher in the low birth weight formula group than in the standard formula group. In cases which require it, a low birth weight formula should be given instead of the standard formula.