A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

BACKGROUND: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS. CASE PRESENTATION: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months. Hematological investigations showed moderate anemia (Hb80 g/L). Red cells displayed microcytosis (MCV76.4 fl, MCH25.6 pg, MCHC335 g/L). The reticulocytes were elevated (4.8%) and the spherocytes were increased (10%). Direct antiglobulin test was negative. Biochemical test indicated a slight elevation of bilirubin, mainly indirect reacting (TBIL32.5 µmol/L, IBIL24 µmol/L). The neonatal HS ratio is 4.38, obviously up the threshold. Meanwhile, a de novo ANK1 mutation (exon 25:c.2693dupC:p.A899Sfs*11) was identified by next-generation sequencing (NGS). Thus, hereditary spherocytosis was finally diagnosed. CONCLUSIONS: Gene detection should be considered in some hemolytic anemia which is difficult to diagnose by routine means. We identified a novel de novo ANK1 heterozygous frameshift mutation in a Yi nationality patient while neither of his parents carried this mutation.

[Risk factors for nutritional iron deficiency anemia in children].

OBJECTIVE: To investigate the clinical features of nutritional iron deficiency anemia (IDA) and analyze the risk factors for the severity of anemia, and to provide a basis for the prevention and clinical diagnosis and treatment of this disease. METHODS: A retrospective analysis was performed on the clinical data of 372 children with IDA to investigate the risk factors for the severity of IDA. RESULTS: Of 372 cases, the male-to-female ratio of these patients was 2.72 : 1. Of all cases, 79.9% were aged 6 months to 2 years, and 30.7% were premature infants; 22.9% had a birth weight of < 2.5 kg, and 77.1% had a birth weight of ≥2.5 kg; 36.0% were delivered by natural birth, and 64.0% were delivered by caesarean section; 79.3% were not given solid foods in time; 46.2% had a history of lower respiratory tract infection/recurrent upper respiratory tract infection, diarrhea, trauma, or surgery. The univariate analysis showed that age, birth weight, gestational age, timely introduction of solid foods, and a history of lower respiratory tract infection/recurrent upper respiratory tract infection, diarrhea, trauma, or surgery were associated with the severity of anemia. The multivariate analysis showed that birth weight and the mentioned medical history were associated with the severity of anemia. CONCLUSIONS: Nutritional IDA is common in children aged 6 months to 2 years. Nowadays, improper feeding pattern is still one of the main causes of IDA. Birth weight and a history of lower respiratory tract infection/recurrent upper respiratory tract infection, diarrhea, trauma, or surgery are closely associated with the severity of anemia.

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.

Background: Thalassemia is an autosomal genetic disorder, found throughout the world. It is still not treatable and create socio economic problems. In this study, we investigated the prevalence and spectrum features of thalassemia in Yunnan Province, the southwestern area of China. During 2014-2018, a total of 3,539 suspected thalassemia children were detected with α- and ß-thalassemia mutations by gap-Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Kunming Children's Hospital. Results: Of these patients, 1,130 were diagnosed thalassemia gene carriers with a carrying rate of 31.92%. Among them, α-thalassemia was 43.63%, ß-thalassemia was 53.98%, cases with both α- and ß- thalassemia was 2.39%. In α-thalassemia patients, the most common mutations was -SEA/αα (52.13%), followed by -α3.7/αα (27.79%), hemoglobin H disease (18.46%), and -α4.2/αα (1.62%). Fifteen gene mutations and 30 genotypes were identified in ß-thalassemia patients, with the five most common mutations CD17 (A>T) (29.51%), CD41-42 (-TTCT) (27.87%), IVS-II-654 (C>T) (14.92%), CD26 (G>A) (6.89%), and CD26/CD27 (2.62%) accounting for 81.81% of the ß-globin gene mutations. Furthermore, we founded two rare mutations CD34 (TGG → TAG) and Int in Chinese populations. Conclusions: Our results suggested that the prevalence and gene mutation spectrum of thalassemia display obviously heterogeneity among children in Yunnan Province. The findings provide the valuable information for premarital and pre-pregnancy screening, prenatal diagnostic services, and designing appropriate prevention programs to control thalassemia for future in this area.