The usefulness of X-linked polymorphic loci as gene markers to track X allele and chimerism in a post-allogeneic peripheral blood stem cell transplant patient with Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome (WAS), an X-linked recessive disorder, is characterized by progressive T-cell immunodeficiency. Laboratory findings generally demonstrate reduced response to T-cell mitogens, markedly decreased serum concentration of IgM, and thrombocytopenia with small platelet volume. Allogeneic HLA-matched sibling bone marrow transplantation (BMT) can correct this disorder. We report the usefulness of X-linked polymorphic loci to detect X-allele gene tracking among WAS siblings and chimerism between a pre- and post-allogeneic matched sibling peripheral blood stem cell transplantation (PBSCT). A 3 1/2 year old boy with clinical and laboratory findings consistent with WAS underwent allogeneic matched sibling PBSCT. We used BclI restriction fragment length polymorphism (RFLP) of intron 18 of factor VII gene and MseI RFLP of the 5' flanking region of factor IX gene to detect X-allele gene tracking among siblings and family members and chimerism in patients between pre-and post-allogeneic matched sibling PBSCT. We were able to demonstrate that determination of BclI and MseI RFLP can be employed to recognize the difference in X-allele genes between the recipient and donor for allogeneic matched sibling PBSCT. The authors also were able to demonstrate that these polymorphic loci can detect full chimerism of donor hematopoietic cells in recipient blood after allogeneic PBSCT. This finding was correlated with improvement of post-PBSCT clinical and laboratory findings. BclI and MseI RFLP associated with X-chromosome can effectively track X-allele, detect carrier state, and demonstrate the different X-allele among male siblings, and chimerism of hematopoietic cells between donors and recipients in a setting of allogeneic matched sibling BMT or PBSCT for X-linked hereditary diseases such as Wiskott-Aldrich syndrome.

Extramedullary haematopoietic tumor producing small intestinal intussusception in a beta-thalassemia/hemoglobin E Thai boy: a case report.

The authors report a case of beta-thalassemia/hemoglobin E disease with extramedullary haematopoietic tumor which developed at the small intestine and caused intussusception. A 7 year-old boy with homozygous beta-thalassemia/hemoglobin E presented with recurrent abdominal pain. The abdominal ultrasonography showed ileo-ileal intussusception with a solid mass as the leading point. Resection of the ileal segment was performed. Pathological examination revealed an extramedullary haematopoietic tumor forming an intraluminal polypoid mass, being the leading point of the intussusception. Extramedullary haematopoiesis in the intestinal tract is rare. To our knowledge, this is the first case of extramedullary haematopoietic tumor that produced intussusception of the small intestine in a beta-thalassemia/hemoglobin E patient.

The correlation of transferrin saturation and ferritin in non-splenectomized thalassemic children.

Thalassemia is a public health problem in Thailand. Progressive iron overload is the life-limiting complication commonly found in thalassemic patients. The assessment of body iron stores is essential for determining the need and efficacy of iron chelation. The parameters of serum iron, total iron binding capacity (TIBC), and serum ferritin were studied in 79 children with thalassemia diseases. The ages ranged from 1 to 17 years with a mean of 7 years and 10 months. Neither of them had clinical symptoms of hepatitis. The correlation between transferrin saturation (TS = serum iron/TIBC x 100) and serum ferritin was shown in the equation of TS = 10.253 In (ferritin) (r = 0.956, p = 0.000). For example, TS = 70.83 per cent indicates serum ferritin of 1,000 ng/ml. Thus, where serum ferritin is not feasible but serum iron and TIBC are available, TS can be used to estimate the level of serum ferritin. Therefore, the assessment of iron stores and monitoring of iron chelation in thalassemic patients can be effectively achieved.

Subcutaneous portacath utilization in pediatric oncology patients: Ramathibodi Hospital experience.

Subcutaneous portacaths (SQP) placement in 19 pediatric oncology patients were studied. Complications of SQP were evaluated. Two patients had premature SQP removal due to fungal infection and breakage, 1 for each. Two patients had catheter-related bacteremia which was resolved by antibiotic administration. Only 1 patient had occasional difficult blood drawing episodes, because the tip of catheter was inserted through external jugular vein instead of subclavian vein. There were no other serious complications except that some of them had clotted formations, which were resolved easily by urokinase administration. Long-term SQP utilization was possible in 17 of 19 patients, with the average time of 7.5 months. Few complications occurred in the group of patients studied. SQP improved quality of medical care and significantly lessened the anxiety of patients who need long-term chemotherapy treatment. Therefore, placement of the intravenous access device is feasible for pediatric oncology patients in Thailand. The patients are no longer suffering from repeated venipunctures. Although it is expensive, it is convenient and useful for some patients with relatively high socioeconomic status. It should be considered for every pediatric cancer patient who needs prolonged chemotherapy and who has affordable means.

Allogeneic bone marrow transplantation in an osteopetrosis patient: first report in Thailand.

We described the successful allogeneic matched sibling bone marrow transplantation (BMT) in a 5-year-old Thai boy in whom osteopetrosis was diagnosed on the basis of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from an encroachment of cranial nerve foramina. The preparative regimen included 4 days of busulfan 4 mg/kg/day, and 4 days of cyclophosphamide 50 mg/kg/day. Complete hematopoietic engraftment and no evidence of graft versus host disease were shown after BMT. Complete hematologic findings were corrected. His hematopoietic chimerism was changed to that of his donor. Post BMT, he has no hepatosplenomegaly. His bone radiographic findings revealed normal after BMT. Bone marrow biopsy showed normalized bone and bone marrow matrix. However, his vision remained impaired. We believe that this is the first case of successful bone marrow transplantation in an osteopetrosis patient in Thailand.