Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.

Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell hypoplasia characterized by a selective defect of erythropoiesis with a normochromic macrocytic anemia and reticulocytopenia often accompanied by various congenital anomalies. The critical region responsible for the pathogenesis of DBA has been mapped in some patients to chromosome 19q13.2 (P Gustavsson, E Garelli, N Draptchinskaia, et al. Am. J. Hum. Genet. 63:1388-1395, 1998) and the gene encoding ribosomal protein S19 (RPS19) is believed to be the candidate gene. Here we present molecular analysis of the RPS19 gene in DBA patients from the Czech National DBA Registry. We found that the RPS19 gene was mutated in 25% (5/20) of DBA patients (insertion, deletion, and point mutations, but no nonsense or splice site mutations). Point mutations were localized to hot spots defined by Willig (TN Willig, N Draptchinskaia, I Dianzani, et al. Blood 94:4294-4306, 1999). Moreover, we describe two processed RPS19 pseudogenes, which were not expressed. Possible models of the DBA pathogenesis in the view of RPS19 mutations are discussed.

[Pregnancy in patients with hereditary spherocytosis]. / Tehotenství u nemocných s dedicnou sférocytózou.

The influence of pregnancy on the course of hereditary spherocytosis was investigated in 21 women during their 44 pregnancies. Fourteen pregnancies were followed up directly, 30 were evaluated from anamnestic data. In the majority of investigated women with hereditary spherocytosis pregnancy caused no problems. When complications developed, they were not serious as a rule. Only about one third of pregnancies in non-splenectomized women developed anaemia or anaemia deteriorated. In the latter enhanced haemolysis participated. In splenectomized patients the incidence of complaints was minimal.

[Thromboelastography--an instrument for the researcher or clinician?]. / Tromboelastografie--nástroj výzkumníka nebo klinika?

Thromboelastography is a method which is used experimentally since 1948. Since the end of the eighties it is experiencing a certain revival also in clinical medicine. The submitted case-record presents this technique as a very useful aid in the differential diagnosis of postoperative haemorrhagic conditions in cardiosurgery. Its application can facilitate aimed treatment of some typical disorders of haemocoagulation.

[Hematologic indications for splenectomy in childhood]. / Hematologické indikace k splenektomii v detském veku.

In 1988-1994 at the Pediatric Surgical Clinic, Faculty Hospital Motol splenectomy was performed in 66 children. Indication for splenectomy were haematological diseases (52), malignant and benign tumours (12) and congestive splenomegaly associated with cytopenia (2). The group does not comprise patients operated on account of injury. The most frequent haematological indications of splenectomy include haemolytic anaemia, chronic idiopathic thrombocytopenic purpura, hypersplenism and other conditions (haematological malignancies). The investigation is focused on haematological indications of splenectomy in childhood and its effect on treatment of the basic disease. Splenectomy on account of hereditary spherocytosis was performed in 31 patients. In all after surgery normalization of the haemogram was recorded. Of 11 patients, who were operated on account of idiopathic thrombocytopenic purpura (ITP) in nine normalization or marked elevation of the number of thrombocytes was observed. In two patients the rise of thrombocytes was slight however haemorrhagic manifestations of the disease receded. One patient operated on account of thrombocytopenia linked to the X chromosome died. In nine patients operated on account of other haematological indications after splenectomy improved values of the haemogram were observed. The immune state of the patients was not investigated.

[Relation between types of erythrocyte membrane defects and the clinical picture in hereditary spherocytosis]. / Vztah mezi typem membránového defektu erytrocytu a klinickým obrazem u hereditární sférocytózy.

From total number of 130 patients with hereditary spherocytosis from 75 families in 119 patients from 69 families a defect of membrane proteins was detected. In 23 families (33.3%) a spectrin defect was involved, in 32 families (46.3%) a combined defect of spectrin and ancyrine and in 14 families (20.3%) a defect of band 3 proteins. Investigation of the membrane defect and the clinical and laboratory picture revealed that the band 3 protein defect of spectrin and ancyrine. There are significant differences in the clinical picture of the two latter defects.

[Beta thalassemia in pediatric practice. A group of 22 pediatric patients]. / Beta thalasémie v pediatrické praxi. Soubor 22 detských pacientu.

The authors describe 22 cases of beta-thalassaemia minor in 11 boys and 11 girls from Czech families. The children suffer as a rule mild hypochromic anaemia with marked microcytosis and rather elevated red cell values. The serum ferritin values are normal, serum iron is normal or slightly elevated. In all children the ratio of haemoglobin A2 is raised (to 4-7%) and in 40% the ratio of haemoglobin F is raised (to 1.5 to 5.9%). There are no differences between boys and girls in the investigated parameters. The boy have, as compared with adult men with beta-thalassaemia minor, significantly lower values of red blood cells and serum ferritin. There are no significant differences between girls and adult women suffering from this disease.