Background:
Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation at c.1448 T>C (L444P). He was treated with ERT and matched sibling hematopoietic stem cell transplantation (HSCT) was performed 6 months after the ERT was initiated. At a 3-year follow-up after the HSCT, he had full engraftment and the Lyso-GL1 levels were also at an acceptable level, which indicated disease remission. In conclusion, the authors suggest HSCT for long-term remission of GD in children.
Abstractα-thalassemia is an inherited blood disorder that is most frequently found in Southeast Asian populations. In Thailand, molecular characterization can diagnose most patients with α-thalassemia; however, several atypical patients are also observed in routine analyses. Here, we characterized α-thalassemia mutations among 137 Hemoglobin H (Hb H) disease patients and three fetuses of Hb Bart’s hydrops, a fatal clinical phenotype of α-thalassemia. Specifically, we performed multiplex ligation-dependent probe amplification (MLPA) followed by direct DNA sequencing. We noticed common genotypes in 129 patients and eight patients had rare Hb H disease caused by compound heterozygous α0-thalassemia (--CR or --SA deletion) with α+-thalassemia (-α3.7/-α4.2/αConstant Springα). Furthermore, two affected fetuses had the --SA/--SEA and one had the --CR/--SEA genotypes. Next, we developed and validated a new multiplex gap-PCR and applied this method to 844 subjects with microcytic red blood cells (RBCs) from various parts of Thailand. The frequency of heterozygous α0-thalassemia was dominated by --SEA 363/844 (43%), followed by --THAI 3/844 (0.4%), --SA 2/844 (0.2%), and --CR 2/844 (0.2%) mutations. These findings suggest that aforementioned four mutations should be routinely applied to increase the effectiveness of diagnosis and genetic counseling in this region.
Acquired platelet dysfunction with eosinophilia (APDE) is a syndrome which manifests as a transient state of platelet dysfunction in the presence of eosinophilia. The aim of this work was to study the clinical course and outcomes of children diagnosed with APDE. The hospital records of children with APDE were retrospectively reviewed and a total of 69 children were included. The mean (standard deviation) age at diagnosis was 6.9 (3.1) years. All of the patients presented with ecchymoses on the extremities, body, and face. None had serious bleeding symptoms. Platelet counts were within the normal range but all of the patients had abnormal platelet morphology by light microscopy. Parasitic infestation was found in 38% and most (87%) were treated with antiparasitic drugs. The median time from the onset of symptoms to remission was 2.6 months (95% CI 1.8-3.1). The overall complete remission rates at 3, 6, and 12 months were 61, 90, and 94%, respectively, with a median follow-up time after remission of 14.0 months (interquartile range 6.0-30.8). Neither univariate nor multivariate analysis indicated any statistically significant determinants for remission time. In our study, APDE was transient with spontaneous remission, no serious bleeding manifestations, and had a benign clinical course.
Age less than 5 years, onset of bleeding less than 14 days, and follow-up platelet count at 4 weeks of at least 100 × 10 l are significant predictive factors for disease resolution among children with newly diagnosed ITP.
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