OBJECTIVETo study the diagnostic value of heart rate variability (HRV) in heart dysfunction in children with beta-thalassemia major (β-TM)by examining the changes of HRV in β-TM children.

METHODSA 24 hours Holter monitoring electrocardiogram (Holter) was performed in 21 children with β-TM and 15 healthy children (control group). The time domain and frequency domain indexes of HRV in the two groups were compared. The correlation between serum ferritin levels and HRV was evaluated.

RESULTSThe time domain indexes SDNN, rMSSD and PNN50 and the frequency domain indexes very low frequency (VLF), low frequency (LF) and high frequency (HF) in the &beta;-TM group were significantly lower than in the control group (P<0.05). There was no correlation between serum ferritin level and HRV in children with &beta;-TM.

CONCLUSIONSThe autonomic nerve dysfunction exists in children with &beta;-TM. HRV analysis is useful in the prediction of early cardiac dysfunction in children with &beta;-TM.

Adolescent ; Child ; Female ; Ferritins ; blood ; Heart Rate ; physiology ; Humans ; Male ; beta-Thalassemia ; blood ; physiopathology

β-thalassemia is a type of inherited hemolytic anemia caused by decreased globin production due to defect of the HBB gene. The pathogenesis of the disease is imbalance of α/β globin chains. The excess of α-globin chains will form hemichromes which can damage red blood cell membranes and lead to hemolysis, ineffective erythropoiesis, and secondary iron overload. Iron overload in turn can cause complications such as growth retardation, liver cirrhosis, cardiac insufficiency, and aggravate the disease phenotype. In recent decades, genes participating in iron metabolism have been discovered, and the mechanism of iron metabolism in the development of thalassemia has gradually been elucidated. Subsequently, by manipulating the expression of key genes in iron metabolism such as hepcidin and transferrin receptor, researchers have revealed that iron restriction can improve ineffective hematopoiesis and iron overload, which may provide a potential approach for the treatment of thalassemia. This article reviews the progress of research on iron metabolism-related genes and related pathways in β-thalassemia.
Humans ; Iron/metabolism* ; Iron Overload/genetics* ; Phenotype ; Research/trends* ; beta-Thalassemia/physiopathology*

OBJECTIVESTo investigate the relationship between the genotype and the hematologic characteristics in the fetuses with different types of thalassemia.

METHODSFetal blood samples were taken by cordocentesis, and hemograms from 572 fetuses at the gestational age of 18 to 38 weeks were examined. According to the genotypes of thalassemia, there were 117 fetuses with heterozygous alpha-thalassemia-1, and 60 with homozygous alpha-thalassemia-1. Twenty had beta-thalassemia mild, and 9 had beta-thalassemia major, respectively. The hematological parameters in these groups were compared with reference group in which 366 cases were included.

RESULTSIn alpha-thalassemia groups, hemoglobin (Hb), hematocrit (HCT), mean cell volume (MCV), mean cell hemoglobin (MCH), and mean cell hemoglobin concentration (MCHC) significantly decreased (P < 0.001), but in heterozygous alpha-thalassemia-1, red blood cell (RBC) increased. In homozygous alpha-thalassemia-1, RBC decreased significantly (P < 0.001), but white blood cell and nucleated erythrocyte increased (P < 0.001). There were no significant differences between beta-thalassemia and reference group in most hematological parameters except for decrease of MCHC.

CONCLUSIONSIn the fetal period, the hemogram of the fetuses with alpha-thalassemia changes significantly, while it does not change in beta-thalassemia. For the couple with heterozygous alpha-thalassemia, hemogram can provide some information for prenatal screening and diagnosis for those fetuses with alpha-thalassemia, especially for homozygous, but genotype detection is necessary for confirming the diagnosis.

Blood Cell Count ; Cordocentesis ; Erythrocyte Indices ; Erythrocyte Volume ; Erythrocytes, Abnormal ; Female ; Fetus ; physiopathology ; Genotype ; Gestational Age ; Hematocrit ; Hemoglobins ; genetics ; metabolism ; Hemoglobins, Abnormal ; genetics ; Humans ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods ; Thalassemia ; blood ; classification ; diagnosis ; genetics ; alpha-Thalassemia ; blood ; genetics ; beta-Thalassemia ; blood ; genetics

INTRODUCTIONHaemoglobin (Hb) E beta-thalassaemia is a common thalassaemic disorder in Southeast Asia and is very common in the eastern and north-eastern parts of India. The disease cause rapid erythrocyte destruction due to the free radical mediated injury but factors for the oxidative injury are not clearly known. We investigated the free reactive iron (non-haem) mediated insult in Hb E beta-thalassaemia.

MATERIALS AND METHODSThirty Hb E beta-thalassaemic patients (age range, 3 to 15 years) who had undergone blood transfusion at least 1 month prior to sampling and 32 normal healthy individuals (age range, 18 to 30 years) were included in this study. We estimated the ferrozine detected intracellular erythrocytic free reactive iron (nonhaem iron), reduced glutathione (GSH), glutathione reductase activity, cellular damage marker serum thiobarbituric acid reacting substances (TBARS) and also serum ferritin using standard methods.

RESULTSWe found that the erythrocytic free reactive iron was significantly higher (P <0.001) in Hb E beta patients and was about 30% more than in controls. The elevated level of erythrocytic non-haem iron was associated with a high level of serum TBARS which was about 86% higher in patients than in controls. The serum ferritin level was also significantly higher (P <0.001) compared to controls. The erythrocytic reduced glutathione level was significantly lower (P <0.001) at about 65% less in the patients' group and the erythrocytic glutathione reductase enzyme was also found to be significantly lower (P <0.001) in Hb E beta-thalassaemia.

CONCLUSIONSWe concluded that a significantly elevated level of erythrocytic free reactive iron and lipid peroxidation end product was associated with low erythrocytic GSH level. This reflects non-haem iron mediated cellular damage in Hb E beta-thalassaemia.

Adolescent ; Case-Control Studies ; Child ; Child, Preschool ; Erythrocytes ; metabolism ; Ferritins ; blood ; Glutathione ; blood ; Glutathione Reductase ; blood ; Hemoglobin E ; Humans ; Iron ; blood ; Lipid Peroxidation ; Oxidative Stress ; physiology ; Thiobarbituric Acid Reactive Substances ; metabolism ; beta-Thalassemia ; blood ; physiopathology