Iron overload is a major complication of thalassemia, clinically manifested as heart failure, liver cirrhosis, diabetes, growth and development retardation, and delayed sexual development, with severe cases leading to death. Standardized iron chelation therapy is essential to ensure long-term and high-quality survival for patients. This guideline provides recommendations on methods for detecting iron overload, the timing for initiating iron chelation therapy, treatment strategies for transfusion-dependent and non-transfusion-dependent thalassemia, and special circumstances regarding iron chelation therapy, serving as a reference for iron chelation treatment in thalassemia.
Humans ; Thalassemia/drug therapy* ; Iron Chelating Agents/therapeutic use* ; Iron Overload/diagnosis* ; Chelation Therapy

OBJECTIVETo investigate the clinical features of β-thalassaemia intermediate (TI) patients and the curative effect and side reactions of hydroxyurea therapys.

METHODSTwenty nine patients with TI were divided into hydroxyurea therapy group and no hydroxyurea therapy group; the curative effect and side reactions in 2 groups were compared; the situation of blood transfusion in the 2 groups was evaluated.

RESULTSIn hydroxyurea therapy group, the hemoglobin level increased after treatment for 3 months; the reticulocyte percentage obviously decreased after treatment for 12 months; the serum ferritin had been maintained at a low level; while in no hydroxyurea therapy group, the levels of hemoglobin and reticulocytes were not significantly improved after treatment, the serum ferritin level gradually increased. In hydroxyurea therapy group, 12 cases were out of blood transfusion after treatment for 12 months, effective rate of treatment was 85.71%; while in no hydroxyurea therapy group, the blood transfusion dependency was not improved after treatment. No serious side reactions were found in all the hydroxyurea treated patients.

CONCLUSIONThe hydroxyurea shows a better curative effect on TI patients, no serious side reactions occur in all the patients treated with hydroxyurea, but the long-term curative effect and side reactions should be observed continuously.

Blood Transfusion ; Ferritins ; analysis ; Hemoglobins ; analysis ; Humans ; Hydroxyurea ; therapeutic use ; Reticulocytes ; cytology ; Treatment Outcome ; beta-Thalassemia ; drug therapy

OBJECTIVETo investigate the clinical features and therapeutic method for severe aplastic anemia (SAA) associated with β-thalassemia, and to improve the recognition of the disease.

METHODSOne patient hospitalized for pancytopenia was reported and the related literatures were reviewed.

RESULTSA 14-years old girl who presented with anemia from her childhood was hospitalized for acute onset of pancytopenia. Routine blood test showed that WBC count was 1.28×10⁹/L, hemoglobin 65 g/L, platelet count 18×10⁹/L, reticulocyte count 2×10⁹/L, neutrophil count 0.03×10⁹/L and mean corpuscular volume 59.6 fl, respectively. Both bone marrow aspiration and biopsy showed hypoplasia. Her red blood cells presented as microcytic hypochromic and target erythrocytes were common on peripheral blood smear. DNA analysis of the patient and her mother showed exon 17 heterozygous β-thalassemia (c.52 A>T). A diagnosis of SAA associated with β-thalassemia was clarified and high-dose cyclophosphamide (HD-CTX, 1.2 g/d×4 d) plus cyclosporine were offeved, which eventually led to a complete hematologic remission 12 months later.

CONCLUSIONThis was the first report of SAA associated with β-thalassemia, and the regimen of HD-CTX led to a complete hematologic remission.

Adolescent ; Anemia, Aplastic ; complications ; drug therapy ; Cyclophosphamide ; administration & dosage ; therapeutic use ; Female ; Humans ; Immunosuppressive Agents ; administration & dosage ; therapeutic use ; beta-Thalassemia ; complications ; drug therapy

OBJECTIVETo evaluate the efficacy and safety of radix astragali and its compound prescription for treatment of β-thalassemia in children.

METHODSThis study was a randomized, controlled, double-blind clinical trial. Fifty-seven children with β-thalassemia were randomly assigned to radix astragali, compound prescription (radix astragali+ codonopsis pilosula + tortoise plastron) and placebo control groups after stratifying the patients according to disease type (intermedia and major). The parameters of hematology and safety were assessed after 12 weeks of treatment.

RESULTSAfter 12 weeks of treatment, the mean Hb elevation levels in children with β-thalassemia intermedia from the compound prescription and the radix astragali groups were 1.21±1.12 and 1.05±0.80 g/dL respectively compared with -(0.28±0.51) g/dL in the placebo control group (P<0.01). Mean Hb levels in the compound prescription and radix astragali groups were significantly higher than in the placebo control group (P<0.05). Therapy with both radix astragali and its compound prescription increased fetal hemoglobin, red blood cell, mean corpuscular hemoglobin and reticulocyte levels in children with β-thalassemia intermedia. The total effective rates were 64% and 62% in children with β-thalassemia intermedia from the compound prescription and radix astragali groups respectively, which was significantly higher than in the placebo control group (9%; P<0.01). Therapy with radix astragali or its compound prescription in children with β-thalassemia major had similar but less favourable effects than the same therapy in children with β-thalassemia intermedia. White blood cell, neutrophil, platelet and hepatic and renal functions were not adversely affected by the medicines.

CONCLUSIONSTherapy with radix astragali or its compound prescription is effective and safe in children with β-thalassemia.

Astragalus Plant ; adverse effects ; Child ; Child, Preschool ; Double-Blind Method ; Drugs, Chinese Herbal ; adverse effects ; therapeutic use ; Female ; Hemoglobins ; analysis ; Humans ; Male ; Prospective Studies ; beta-Thalassemia ; blood ; drug therapy

OBJECTIVETo investigate the effect of Yisui Shengxue Granule (, YSSXG), a complex Chinese medicine, on the oxidative damage of erythrocytes from patients with hemoglobin H (HbH) disease.

METHODSTwenty-two patients with HbH disease and 22 healthy volunteers were observed. YSSXG was given to patients with HbH disease for 3 months. Before and after the 3-month treatment, blood parameters [hemoglobin (Hb), red blood cells (RBCs), and reticulocyte percent (Ret)] were examined; inclusion bodies in erythrocytes were observed by transmission electron microscopy (TEM); activities of antioxidant defense enzymes [superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), and catalase (Cat)] and erythrocyte membrane malondialdehyde (MDA) concentrations were determined.

RESULTSIn patients with HbH disease, measured values of RBC and Hb obtained from the first to the third months after treatment with YSSXG were significantly higher than before treatment (P<0.01). Measured values of Ret from the second to the third months after treatment were significantly lower than before treatment (P<0.05 and P<0.01, respectively). Prior to treatment with YSSXG, TEM images of RBCs showed the presence of numerous inclusion bodies. After treatment with YSSXG, the amount and volume of inclusion bodies decreased. Treatment with YSSXG also led to a significant increase in SOD activity (P<0.01), a decrease in Cat activity (P<0.01), and no significant differences in GSHPx activity (P>0.05) or MDA concentration (P>0.05). However, compared with the healthy counterparts, SOD, GSH-Px, and Cat activities presented at high levels (P<0.01) both before and after treatment.

CONCLUSIONSYSSXG could improve the degree of hemolysis and anemia in patients with HbH disease. The mechanism may be related to its antioxidative effects, which could elevate the activity of total SOD in erythrocytes and efficiently inhibit the oxidative precipitation of β-globin chains.

Adolescent ; Adult ; Catalase ; metabolism ; Child ; Child, Preschool ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Erythrocyte Membrane ; drug effects ; metabolism ; ultrastructure ; Erythrocytes ; drug effects ; enzymology ; pathology ; ultrastructure ; Female ; Glutathione Peroxidase ; metabolism ; Humans ; Inclusion Bodies ; drug effects ; ultrastructure ; Male ; Malondialdehyde ; metabolism ; Oxidative Stress ; drug effects ; Superoxide Dismutase ; metabolism ; Young Adult ; alpha-Thalassemia ; blood ; drug therapy ; pathology

OBJECTIVETo study the effectiveness and safety of deferasirox (DFX) in the treatment of iron overload in children with β-thalassemia major.

METHODSTwenty-four β-thalassemia major children with iron overload who received regular blood transfusion were randomly enrolled. The serum feritin (SF) levels were measured in the patients after different doses of DFX treatment. The DFX treatment-related adverse events were observed. The values of cardiac MRI T2* and liver MRI T2* were compared between the patients receiving DFX treatment for 5 years and the patients treated with deferoxamine and deferiprone.

RESULTSThe patients with iron overload did not respond to DFX at the initial dose of 20-30 mg/kg•d. However, the SF level decreased significantly after the dose of DFX increased to 30-40 mg/kg•d (U=58, P<0.01). Serum liver transaminase elevation was the most common adverse effect, followed by non-progressive elevation in serum creatinine level. The mean SF level was significantly lower (1748±481 ng/mL vs 3462±1744 ng/mL; P<0.05), in contrast, the liver MRI T2* value was significantly higher (8.5±2.9 ms vs 2.7±1.9 ms; P<0.01) in patients receiving DFX treatment for 5 years than in the controls. There were no significant differences in the cardiac MRI T2* value between the two groups.

CONCLUSIONSDFX can reduce SF levels in a dose-dependent manner in children with β-thalassemia major. It can significantly lower liver iron overload but not cardiac overload. Serum liver transaminase elevation and non-progressive elevation in serum creatinine level are major adverse effects in DFX treatment.

Adolescent ; Adult ; Benzoates ; adverse effects ; therapeutic use ; Child ; Child, Preschool ; Dose-Response Relationship, Drug ; Female ; Ferritins ; blood ; Humans ; Iron Chelating Agents ; adverse effects ; therapeutic use ; Iron Overload ; drug therapy ; Male ; Transfusion Reaction ; Triazoles ; adverse effects ; therapeutic use ; beta-Thalassemia ; blood ; complications ; therapy

OBJECTIVETo study the clinical effect and security of Yisui Shengxue Granule (YSG) in treating beta-thalassemia.

METHODSOne hundred and fifty-five patients with beta-thalassemia from high-incidence area in Guangxi Zhuang Autonomous Region were treated with YSG for 3 months. Clinical symptoms and levels of hemoglobin (Hb), red blood cell (RBC), reticulocyte (Ret) and hemoglobin F (HbF) were observed before and after treatment, and the adverse reaction occurred in the therapeutic course was observed as well. A 3-6 months follow-up study was performed after withdrawal of YSG.

RESULTSLevels of Hb, RBC, Ret and HbF obviously elevated, and clinical symptoms markedly improved in patients after treatment since the 1st month to the 3rd month (all P < 0.01). Dynamical observation showed that the improvement of symptoms was in accordance with the elevation of hemorrheological indexes. The treatment was effective in 145 patients and ineffective in 11, and the total effective rate being 92.9%, without any adverse reaction occurred. Follow-up study showed the therapeutic effect could be sustained for 3 to 4 months.

CONCLUSIONYSG has evident effect on alpha-thalassemia without obvious adverse reaction, which provides a definite basis for treatment of beta-thalassemia with TCM.

Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Fetal Hemoglobin ; metabolism ; Follow-Up Studies ; Humans ; Male ; Medicine, Chinese Traditional ; Phytotherapy ; beta-Thalassemia ; blood ; diagnosis ; drug therapy

OBJECTIVETo investigate the mechanism of yisui shengxue granule (YSG) in children with betathalassemia.

METHODSThe changes of hemoglobin (Hb), red blood cells (RBC), reticulocyte (Ret) and fetal hemoglobin (HbF) of 20 children with beta-thalassemia were measured before and after treatment. The effect of YSG on gene expression in myelo-karyocytes in 3 selected children treated effectively by YSG was determined by using DDRT-PCR.

RESULTSThe hematologic parameters were significantly enhanced and the ferritin gene expression declined after treatment respectively, as compared with those before treatment, the difference were significant (P < 0.01 or P < 0.05).

CONCLUSIONYSG could improve the clinical symptoms of children with beta-thalassemia. One of its therapeutic mechanisms may be its action in decreasing ferritin gene expression so as to effectively relieve the accumulation of iron in body.

Base Sequence ; Child ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Ferritins ; biosynthesis ; genetics ; Gene Expression Profiling ; Humans ; Male ; Molecular Sequence Data ; Phytotherapy ; RNA, Messenger ; biosynthesis ; genetics ; beta-Thalassemia ; drug therapy ; genetics