The Body Development, Growth And Iron Overload In Child With β-Thalassemia Major In The Western Of Guangxi

Objective:To analyzing the clinical and laboratory data of 179 patients with β-thalassemia major (referred to as β-TM) in the western of Guangxi, explore the influencing factors of growth and iron overload in children with β-thalassemia,to provide reference for clinical diagnosis and treatment.Methods:Analysis 179 cases of β-TM treated during January 2013 to January 2015 in Affiliated Hospital of Youjiang Medical pediatric outpatient and inpatient. First, describe the clinical manifestations, laboratory and imaging examinations, treatment status, then analysis the main factors affecting the growth and development, such as blood transfusion status, iron overload, age, etal. Finally,the patients were divided to the irregular blood transfusions group and regular blood transfusions group, the regular chelated group and non-regular chelated group, related indicators between the two groups were analyzed respectively.Results:(1) There are 103 male,76 female, the age range from 3 months to 18 years,4 years old on average.107 cases (60.8%) have thalassemia appearance,122 cases (68.2%) hepatomegaly,113 cases (63.1%) splenomegaly There are come from Baise and the surrounding region,153 cases (85.47%) of Zhuang nationality. (2) Before the first blood transfusion Hb range 19-82g/L, mostly in 50-60g/L or so, the mean pre-transfusion Hb 64.55±16.58g/L,20.1% (36 cases)≥85g/L. (3) The median of SF is 1444ng/mL,65.92%(118 cases) iron overload (>2 years 100 cases),31.28%(56 cases) have severe iron overload. (4) 91 cases (50.8%), short stature (diminutive proportions:≤2 years 31.2%,≤6 years 41.7%,>6 years 81.4%),89 patients (46.7%) low body weight,63 cases (35.2%), while short stature with low body weight. (5) Sexual Development: >10 year-old 24 cases,13.5 years old on average.12 cases have spontaneous pubertal development (4 males,8 females), Tanner stage Ⅱ-Ⅲ period,12 cases without spontaneous puberty. (6) In 85 cases of Hb electrophoresis results,14 cases of HbE/β-thalassemia, HbF between 18.46% to 63% the median is 40.6%; the remaining 71 cases of HbF between 78.4 to 99.6%,57 cases (80.3%) HbF> 90%,the median is 96.6%. (7) 156 cases showed that 10 kinds of β gene mutation, the main genetic mutations were CD 17 and CD41-42,which accounted for 32.05%β0 homozygotes (50 cases), β0/β1 double heterozygotes accounted 32.69%(51 cases), β0/β+double heterozygotes accounted 10.26%(16 cases), HbE/β-thalassemia accounted for 6.41%(10 cases), β-TM composite α-thalassemia accounted for 18.59%(29 cases). (8) 76 cases of liver function tests,64.47%(49 cases) anomaly; 71 cases were detected electrolyte 9,63.38%(45 cases) abnormalities,54.93%(39 cases) of zinc deficiency; 68 cases of enzymes tests,54.41%(37 cases) anomaly; 29 cases of thyroid function, seven cases of abnormalities, including six cases of subclinical hypothyroidism, one case of hypothyroidism; sex hormones,≥12 years three cases, two cases of exceptions. (9) Seven cases of heart T2* values detected, two cases of mild cardiac iron deposition,both of them over 8 years old; 9 cases (all cardiac enlargement) measured LVEF,5 cases≤56%,4 cases with heart failure; 5 cases (SF≥2500ng/ml) checked abdominal CT, were have liver hemochromatosis. (10) There were 27cases with ischemic heart disease; 8 cases with heart failure; 12 cases with hypersplenism or splenomegaly syndrome; 2 cases with autoimmune hemolytic anemia; 2 cases with diabetes; 1 case with hypothyroidism. (11) There were 79.9%(143 cases) who had not canonical blood transfusion,20.1%(36 cases) had canonical blood transfusion;80.3%(102 cases) had not canonical iron therepy,19.7%(25 cases) had canonical iron therepy; 11 cases (6.1%) had canonical blood transfusion and iron therepy; 5.6% (10 cases) had full splenectomy or splenic embolization surgery,one case had bone marrow transplant and has been cured. (12) Compared with control group, short stature group mean pre-transfusion Hb level lower, age older than the control group, higher SF levels (P<0.05); low body weight group SF levels higher than the control group (P<0.05). (13) According to genotype, β0/β0 was divided in group A、β0/β0 and HbE/β-thalassemia was divided in group B、 β-TM composite a-thalassemia was divided in group C, The three groups in age, blood transfusion and iron drug usage in case there was no significant difference (P>0.05), group A SF higher than group B (P<0.05). (14) Irregular blood transfusions group compared with regular blood transfusions, two groups of age, SF values was no significant difference (P>0.05), The former’s hepatosplenomegaly ratio and diminutive ratio higher than the latter (P<0.05). (15) Non-regular chelated group compared with the regular chelated group, the former’s age, blood transfusion were lower than the latter (P<0.05), but the former hepatosplenomegaly ratio, the ratio of short stature, low body weight ratio and SF levels were higher than the latter (P<0.05).Conclusions:1. Most of the patients with P-TM have thalassemia appearance, growth retardation, hepatosplenomegaly, and more other complications characteristics in the western of Guangxi.2. Most of patients with low hemoglobin in the initial treatment and low mean hemoglobin before transfusion, does not meet the standard blood transfusion guidelines.3. Most of patients who over two years old have varying degrees of iron overload, and most of patients not had canonical iron therepy;. Iron overload have a certain degree correlation with genotype.4. In the cases examined, the majority of patients have myocardial damage, liver dysfunction, zinc, and some older patients have endocrine abnormalities and other complications5. Not canonical iron therepy and not canonical blood transfusion are the main factor resulting in growth retardation, of patients with (3-TM in the western of Guangxi.6. In terms of patients with β-TM in the western of Guangxi., always standardized treatment for them have a long way to go.