Objective:To investigate the genotypic and hematological characteristics of β-thalassemia patients and carriers from Henan Province of China.Methods:Clinical data of the patients and carriers were collected. Results of routine blood test, hemoglobin electrophoresis and genetic testing were retrospectively analyzed.Results:Of the 83 β-thalassemia patients and carriers, there were 46 females and 37 males, and their mean age was 27.37 ± 14.71, ranging from 5 months to 83 years. A total of 13 types of β-thalassemia alleles (86 alleles in total) were detected, with the most common three including IVS-Ⅱ-654(C>T) (33.72%), CD41-42(-TTCT) (26.74%) and CD17(A>T) (18.60%). Five rare alleles, including CD8-9(+ G), IVS-Ⅱ-1(G>A), CD42(T>G), and start codons ATG>AGG and ATG>ACG were identified. Among these, HBB: c. 128T>G(CD42T>G) was previously unreported in China. Fifteen β-thalassemia genotypes were detected, which included 12 simple heterozygote genotypes (80 cases, 96.40%), 2 double heterozygote genotypes (2 cases, 2.40%) and 1 homozygote genotype (1 case, 1.20%). The main manifestations were mild microcytic hypochromic anemia and raised HbA2. Compared with those with a β + /β N genotype, carriers with a β 0/β N genotype have lower mean corpuscular volume (MCV) and mean corpusular hemoglobin (MCH) but higher HbA2 ( P<0.05). Conclusion:β-thalassemia is not rare in Henan Province and its characteristics are different from those in high incidence areas, which deserves close attention. The newly discovered HBB: c. 128T>G (CD42T>G) has enriched the spectrum of β-thalassemia mutations in China. Above results will also facilitate genetic counseling and prenatal diagnosis of β-thalassemia in Henan Province.

Objective:To analyze the clinical characteristics and long-term outcome of Langerhans cell histiocytosis with multisystem involvement (MS-LCH) in children, and to evaluate the efficacy of modified DAL-HX83/90 protocol.Methods:This retrospective study included 53 patients with MS-LCH admitted to the Department of Pediatric Hematology and Oncology, First Affiliated Hospital of Zhengzhou University from January 2011 to May 2019. Modified DAL-HX83/90 protocol was used in all patients as an initial treatment. The patients were divided into the group with (RO+) or without (RO-) risk organ involvement. The RO+group was further divided into two groups, as RO+Ⅰ group (lung involvement only) and RO+Ⅱ group (extra-pulmonary, with or without lung involvement). The clinical characteristics and the long-term outcome were summarized. Event-free survival (EFS) and overall survival (OS) curves were analyzed with Kaplan-Meier method. Univariate and multivariate analysis of prognostic factors including age, sex, risk organ involvement and response to 6-week induction were analyzed with Log-Rank test and Cox proportional hazards models.Results:Among the 53 children with MS-LCH, 34 were male and 19 were female. The age of onset was 21 months (3 months-13 years). There 22 were in RO+group, with 12 in RO+Ⅰ group and 10 in RO+Ⅱ group, and 31 in RO-group. The follow-up period was 51 (12-144) months. The overall response rate of 6-week induction was 89% (47/53), and the recurrence rate was 30% (16/53). The 5-year EFS and OS were (67±6) % and (83±5) %, respectively. Univariate analysis showed that the 5-year EFS and OS of patients who responded well to 6-week induction chemotherapy were significantly higher than those who had no response ((76±6) % vs. 0, (88±4) % vs. (41±22) %, χ 2 = 34.743, 10.608, both P<0.05). The 5-year EFS and OS of RO-group were significantly higher than that of RO+group ((80±7) % vs. (49±10) %, (93±4) % vs. (70±10) %, χ 2=6.022, 4.793, both P<0.05). And the 5-year EFS of RO+Ⅰ group was significantly higher than that of RO+Ⅱ group ((83±10) % vs. (10±9) %, χ 2=9.501, P=0.002). While age and sex were not significantly associated with 5-year EFS and OS (all P>0.05). Cox proportional hazard regression model showed that response to 6-week induction chemotherapy was the independent risk factor for EFS ( HR=13.114, 95% CI3.759-45.742, P<0.01) and OS ( HR=7.748, 95% CI 1.542-38.920, P=0.013). Conclusions:Most of the children without risk organ involvement treated with modified DAL-HX83/90 protocol could achieve long-term survival. However, the children involved liver, spleen, or hematopoietic system had a high risk of disease progression and recurrence.

Objective:To analyze the clinical features, treatment and prognosis of clear cell sarcoma of kidney (CCSK) in children.Methods:A retrospective case series study was conducted on 12 children with CCSK who were admitted to the Department of Hematology and Oncology, Children′s Hospital, the First Affiliated Hospital of Zhengzhou University from January 2014 to December 2021.The clinical characteristics, diagnosis and treatment process, and follow-up results were summarized, and the survival rate was calculated using the Kaplan-Meier method.Results:Among the 12 patients, 10 were males, and 2 were females, with the age of onset of 2.8 (1.0-5.7) years.CCSK originated from the left kidney in 6 patients and from the right kidney in 6 patients.All the patients underwent complete resection of the tumor, including 2 patients in stage Ⅰ, 4 patients in stage Ⅱ, 3 patients in stage Ⅲ, and 3 patients in stage Ⅳ; and 12 children received the corresponding chemotherapy regimen, 6 cases received radiotherapy.During the follow-up of 56 (19-94) months to December 31, 2023, 4 cases died of disease recurrence, and 8 cases survived without disease.The 5-year event-free survival rate was (62±11)%, and the 5-year overall survival rate was (72±9)%.Conclusions:Pediatric CCSK is more common in male children.The combination of radical surgery and postoperative chemoradiotherapy offers a good prognosis in the early stage, while the mortality of patients due to recurrence and distant metastasis is high.