Intravenous gamma globulin for treatment of chronic idiopathic thrombocytopenic purpura in children.

A prospective and descriptive study was carried out in 17 children with chronic ITP. Five-day course of Intraglobin (400 mg/kg/d x 5) was given intravenously to 10 children with the age of 4-16 years (5 males and 5 females). Two-day course of Venoglobulin-I (1 g/kg/d x 2) was given intravenously to 7 children with the age of 3-15 years (3 males and 4 females). Intraglobin and Venoglobulin-I were effective in treating children with chronic ITP. All of the patients had transient increased in their platelet counts during the first 2 weeks. The two-day course of Venoglobulin-I was superior to the five-day course of Intraglobin. Mild adverse effects were observed in a greater percentage of patients treated by Venoglobulin-I than in patients treated by Intraglobin. Intravenous immunoglobulin was one of the choices of treatment in children with chronic ITP, but the cost of immunoglobulin or gamma globulin is quiet high.

Clinical, hematological and molecular features in Thais with beta-Malay/beta-thalassemia and beta-Malay/HbE.

A total of 50 patients and relatives were studied comprising 12 cases of compound heterozygosity of beta-Malay and beta + thalassemia, 10 cases of compound heterozygosity of beta-Malay and beta degree thalassemia, 10 cases of beta-Malay and HbE and 18 cases of beta-Malay heterozygosity. Patients with beta-Malay and HbE had very mild clinical symptoms or were asymptomatic of thalassemia disease in the absence of blood transfusion. Homozygosity of beta-Malay produce mild clinical symptoms of thalassemic disease with normal facial characteristics and were not transfusion dependent. Patients with beta-Malay and IVS 1 nt 5 (G-C) had severe clinical symptoms, and were transfusion dependent. Patients with beta-Malay and beta degree thalassemia had severe clinical symptoms, delayed weight and height in relation to age, were transfusion dependent and had classical features of thalassemic diseases.

Analysis of beta-thalassemia mutations and beta-locus control region hypersensitive sites 2, 3 and 4 in southern Thailand.

beta-Thalassemia mutations in 221 chromosomes of unrelated southern Thai patients were analyzed. Using dot blot hybridization of PCR amplified DNA with 15 allele specific oligonucleotide probes for beta-thalassemia mutations 196/221 (89%) of the alleles were characterized. Ten mutations were identified, of which six [codon 41/42 (TTCTTT-TT), IVS1 nt5(G-C), codon 19 (AAC-AGC), codon 17 (AAG-TAG), IVS1 nt1(G-T), -28 TATA (A-G)], accounted for 85%. Among the 25 uncharacterized alleles, 15 were analyzed by automated fluorescent DNA sequencing of the whole beta-globin gene with normal results in 7 alleles. Four mutations, previously described were detected in 8 alleles. They were a G-A at IVS1 nt1 in one heterozygote, a G-T at IVS1 nt1 in one heterozygote, codon 15 (TGG-TAG) in two heterozygotes and poly A(AATAAA-AATAGA) in two homozygotes. The polyadenylation mutations, previously demonstrated in the Malaysian population have been first detected in Thailand. It is remarkable that the IVS1 nt1 (G-A) mutation, previously reported in the Mediterranean population has been found only in the south of Thailand. This mutation was probably imported from Portugal. In former times the Portuguese had settled in Phuket in southern Thailand. In order to find a causative mutation in the rest of 7 true unknowns we performed direct DNA sequencing of the core fragments of the beta-Locus Control Region Hypersensitive Sites (LCR HS) 2,3 and 4 in these 7 samples. DNA sequencing of HS2 and HS3 fragments showed normal results. The heterozygote A/G was present in the palindromic sequence of the LCR HS4 (TGGGGACCCCA) in 6 beta-thalassemia samples. The same heterozygote A/G was found in 5/12 normal subjects. The allele frequency of A (0.79) is obviously higher than that of G (0.21). This could be due to the stability of the palindromic structure. When an A is in the middle of the palindromic sequence, the hairpin structure is formed. In contrast the hairpin structure disappears when a G is in the middle of the palindromic sequence. This structure is not further symmetric and may not be so stable as the hairpin structure. beta-Thalassemia mutations in southern Thailand are very heterogeneous and their distribution is different from other parts of the country.

The prevalence of hepatitis C virus antibodies in thalassemic patients in the south of Thailand.

One hundred and one thalassemic patients, 37 with homozygous beta-thalassemia, 60 with beta-thalassemia Hb E and 4 with hemoglobin H disease with Hb Constant Spring were studied. Twenty-four of 101 (23.8%) tested positive for antibody to hepatitis C virus (anti-HCV). Anti-HCV positivity among those with homozygous beta-thalassemia was significantly higher than anti-HCV positivity among the beta-thalassemic Hb E group. The number of blood transfusions received by anti-HCV positive thalassemic patients was significantly higher than that by anti-HCV negative thalassemic patients. Ninety per cent of anti-HCV positive thalassemic patients had persistently or intermittently raised SGPT levels.

Molecular basis of beta-thalassemia in Thai Muslim patients in the the south of Thailand.

Among a sample of 29 unrelated Thai Muslim children, a total of 37 beta thalassemia genes was identified and 33 out of 37 mutations (89%) were characterized giving 6 different mutations. Four mutations [IVS-1 nt 5 (G-C), codon 19 (A-G), codons 41/42 (-CTTT) and IVS-1 nt 1 (G-T)] account for 86%. IVS-1 nt 5 (G-C) is the most common mutation found in Thai Muslim patients. Thai Muslim patients share the four most common mutations with Malays.

The spectrum of beta-thalassemia mutations in southern Thailand.

Beta-thalassemia mutations in 282 alleles of 253 unrelated individuals originating from various provinces in the south of Thailand were characterized by dot blot hybridization, specific PCR-amplification and direct DNA sequencing. It was possible to characterize the mutations in 274 (97.2%) of alleles studied. Twelve different point mutations and two different large deletions of the beta-globin gene were identified. Seven common mutations, namely 4 bp deletion at codons 41/42. IVS1 position 5 (G-C), codon 19 (AAC-AGC), codon 17 (AAG-TAG), IVS1 position 1 (G-T), position -28 (A-G) and 3.5 kb deletion, accounted for about 91.5%. The mutations at mRNA cap site + 1 (A-C) and IVS1 position 1 (G-A), previously undescribed in Thailand, were found in 1 and 2 individuals, respectively. A novel mutation of 105 bp deletion at the 5' end of beta-globin gene was detected in a family originating from this area. The knowledge from this study should be useful for planning of genetic counseling and prenatal diagnosis programs for patients with beta-thalassemia in the south of Thailand.

Acarboxy prothrombin (PIVKA-II) in cord plasma in the south of Thailand.

Acarboxy prothrombin or PIVKA-II (protein induced by vitamin K absence or antagonist-II) was used to determine the presence of vitamin deficiency in newborn infants. Of 230 cord blood samples assayed by using ELISA method, 34.8 per cent were positive for PIVKA-II 0.13-17 AU/ml. The positive rate for PIVKA-II was greater in infants of primigravida (50.7%) than in those of multigravida (27.9%). All infants received prophylactic vitamin K, and no infant with positive PIVKA-II in cord blood subsequently had clinical bleeding. Because of the high prevalence of vitamin K deficiency in newborn infants in the South of Thailand, all newborn infants should receive prophylactic vitamin K at birth.

Hemoglobin H disease in children.

One hundred and ten children with hemoglobin H (Hb H) disease who attended the hematology unit of the Department of Pediatrics at Songklanagarind Hospital from 1982 to 1988 were studied. Hb Constant spring (Hb CS) was found in 55 patients. Four patients, two with Hb CS, were diagnosed during the newborn period. Anemia and jaundice were the main symptoms in three neonates, while the fourth one was found to have anemia with hepatosplenomegaly. Nine infants were diagnosed in the first year of life with the chief symptoms of anemia with or without fever. Two of them needed blood transfusions. Hb H was found in only three infants, while Hb Bart's was the constant finding in every infant. The Hb H children with Hb CS had a more severe clinical course than the group without Hb CS. The levels of Hb at steady state were found to be lower and the reticulocyte counts, red cells with inclusion bodies and Hb H were higher in patients with Hb CS. The clinical picture of acute hemolysis in Hb H children can be found in the neonatal period and the difference in clinical severity between the two genotypes of Hb H disease seems to develop from the first year of life.

Spontaneous platelet aggregation in thalassemic children and adolescents.

Spontaneous platelet aggregation was studied in 51 children and adolescents, comprising 30 nonsplenectomized thalassemic patients, 12 splenectomized thalassemic patients and 9 normal children. Spontaneous platelet aggregation was significantly increased in whole blood and platelet-rich plasma of splenectomized thalassemic patients but not in nonsplenectomized cases.

Molecular heterogeneity of beta-thalassemia in Thailand.

beta-Globin genes in 294 chromosomes of beta-thalassemia homozygotes and patients of beta-thalassemia/HbE in the northeast, the middle and the south of Thailand were analyzed by the PCR related techniques: dot blot hybridization, direct restriction assay, direct cloning and direct sequencing of the amplified DNA fragments. Twelve different mutations were detected at various frequencies. They are an A-G at-28, codon 19 (AAC-AGC), a G-T at IVS-1 nt1,a G-C at IVS-1 nt5, a C-T at IVS-2 nt654, a G addition in codons 8/9, a C deletion in codon 41, a 4 bp deletion in codons 41/42, an A addition in codons 71/72, an AAG-TAG in codon 17, a CAG-TAG in codon 26, a TAC-TAA in codon 35 and a 8 bp deletion in codons 123-125. We also developed allele specific-polymerase chain reaction to facilitate non-radioactive detection of the mutation. Origins and spread of mutations are speculated based on the results of determination of haplotypes and frameworks that are linked to the thalassemia alleles.

Protein C and protein S deficiency in thalassemic patients.

To investigate the status of the protein C-protein S anticoagulant pathway in thalassemic patients, we measured protein C and protein S levels of plasma of 30 adults and 18 children with beta-thalassemia/HbE disease, beta-thalassemia major and HbE disease. Mean +/- 1 SD values of protein C, protein S and other coagulant proteins produced by the liver were as follows: protein C 50.4 +/- 17.2%; protein S 58.8 +/- 25.5%; antithrombin III 78.1 +/- 12.8%; PLG 86.4 +/- 18.4%; prothrombin 71.0 +/- 13.1%; factor VII 72.7 +/- 21.5%; and factor X 79.2 +/- 15.6%. Protein C and protein S levels of thalassemic patients were significantly lower than those of other coagulant proteins produced by the liver. Decrease in protein C level was stronger than that of proteins S. gamma-Carboxylated protein C levels of splenectomized patients were significantly lower than those of nonsplenectomized patients. Severe decrease of protein C and protein S may be responsible for occurrence of thrombosis in thalassemic patients.

Langerhans cell histiocytosis of the spinal cord: a case report.

A 14-year-old boy with Langerhans cell histiocytosis of the spinal cord who presented with progressive enlarged bilateral inguinal masses, difficulty in urination, walking and paresthesia in the left lower extremity and perineum is reported. Radiographic studies and computerized axial tomography of T12 to L2 spines showed destruction of the vertebral body of L1 and left-sided paravertebral soft tissue mass extending into the vertebral canal with complete block of the dural sac at the level of L1 spine. The operative finding was an extradural mass at the anterolateral aspect of L1 to L2 spines. After surgical removal of the lesion and chemotherapy with vincristine, prednisolone, 6-MP and methotrexate for 15 months, his neurological deficit improved and there has been no evidence of recurrent disease during his two years follow-up. Langerhans cell histiocytosis is a possible cause of spinal cord compression or cauda equina syndrome and should be considered after excluding other more common causes.

Congenital factor XIII deficiency: report of a case and literature review.

We described a five-year-old boy with congenital deficiency of factor XIII. He had bled from the umbilical and circumcision sites during the first week of life. He had frequent ecchymoses and hematomas within 12-24 hours after trauma. His parents are first cousins. The screening hemostatic tests of this patient and his parents were within normal limits. Factor XIII, known as "fibrin-stabilizing factor", is a transpeptidase that produces strong covalent bonds between soluble fibrin monomers formed during coagulation. Presumptive diagnosis of factor XIII deficiency was made with a clot solubility screening test and confirmation was accomplished by demonstrating the absence of factor XIII by latex agglutination.

Clinical manifestation of malaria in infancy in southern Thailand.

A retrospective study of malaria in infancy in Haadyai Hospital from August 1977 to July 1980 revealed a total number of 35 patients. Six infants were below the age of one month, the youngest being 16 days old. Fever was the most common feature at about 97 percent. Anaenia was found in about 91 percent. Splenomegaly and hepatomegaly were found about 74 percent. The other clinical features were diarrhea (20 percent), convulsion (20 percent), jaundice (11 percent), vomiting, drowsiness, coma, dyspnoea, irritability and refuse feeding. Plasmodium vivax was the causative agent in 60 percent and plasmodium falciparum was found in 40 percent.