Hemoglobins, Abnormal ; Humans ; alpha-Thalassemia ; complications ; beta-Thalassemia ; complications

This article summarizes the pathogenesis of hypercoagulability in β thalassemia patients, including platelet activation, alteration of red blood cell membranes, abnormal expression of adhesion molecules on vascular endothelial cells and iron overload. Clinical evidence, clinical manifestations of hypercoagulable state and thrombosis in β thalassemia and the effect of splenectomy on hypercoagulable state were reviewed. Strategies to prevent and treat the thromboembolic events in β-thalassemia intermedia are also discussed, including transfusion therapy to raise hemoglobin levels, avoidance or delay of splenectomy and a number of treatments in the exploration.
Erythrocyte Aggregation ; Humans ; Thrombophilia ; etiology ; prevention & control ; beta-Thalassemia ; complications

OBJECTIVETo report 7 cases of acquired hemoglobin H in myelodysplastic syndromes.

CASE DATA AND DISCUSSIONClinical materials of the 7 cases were retrospectively presented. Clinical features of the similar cases in literatures were reviewed. The criteria for diagnosis of this entity by Steensma and its pathogenesis were discussed.

CONCLUSIONThis entity is a new subtype of MDS with unique clinical features and pathogenesis, and might be a proper model in the study of MDS transformation.

Adult ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; complications ; alpha-Thalassemia ; complications

Gallstone disease is a common association in patients with haematological splenomegaly. When indicated, simultaneous splenectomy and cholecystectomy should be performed and traditionally this is accomplished by open surgery. We report a 17 year old thalassaemic girl with splenomegaly complicated by gallstone pancreatitis. We treated her with a combination of needlescopic cholecystectomy and laparoscopic splenectomy as well as delivering the huge spleen via a pfannenstiel incision to hide the scar. We believe this technique is an acceptable alternative mainly for rapid delivery of the spleen and to minimize visible scars hence improving cosmesis.
Cholecystectomy, Laparoscopic/*methods ; Cholelithiasis/etiology ; Cholelithiasis/*surgery ; Splenectomy/*methods ; Splenomegaly/etiology ; Splenomegaly/*surgery ; beta-Thalassemia/*complications

OBJECTIVE: To investigate the difference of therapeutic effects on children with thalassemia at different age after hematopoietic stem cell transplantation. METHODS: The clinical data of children with thalassemia treated in our hospital were retrospectively analyzed. The children were divided into 2-5 years old group and 6-12 years old group. The success rate of implantation, transplant-related mortality, GVHD incidence, and other transplant-related complications, as well as thalassemia-free survival (TFS) were compared between the two groups. RESULTS: The incidence of GVHD, hemorrhagic cystitis and severe oral mucositis after transplantation in the 2-5 years old group were significantly lower than those in the 6-12 years old group, while there was no statistically significant difference in the TFS between the two groups. CONCLUSION Children in the low age (2-5 years old) group show fewer complications and higher quality of life after transplantation, therefore, stem cell transplantation at 2-5 years old is more conducive to rehabilitation of the children with thalassemia.
Child ; Child, Preschool ; Graft vs Host Disease/complications* ; Hematopoietic Stem Cell Transplantation ; Humans ; Quality of Life ; Retrospective Studies ; Thalassemia/therapy* ; beta-Thalassemia/therapy*

Humans ; Immunophenotyping ; Leukemia, Large Granular Lymphocytic ; classification ; complications ; Receptors, Antigen, T-Cell, gamma-delta ; beta-Thalassemia ; complications

OBJECTIVETo analyze the relation between the genotype and phenotype in a Chinese patient with thalassemia intermedia and its implications for prenatal diagnosis and genetic counseling of thalassemia intermedia caused by co-existence of Hb H disease and beta; thalassemia major.

METHODSPhenotypic analysis was performed using standard hematological tests to measure red blood cell parameters and Hb concentration. Genotyping of beta thalassemia mutations and alpha thalassemia deletion were conducted using reverse dot-blot (RDB) assay and gap-PCR, respectively. We investigated the pathogenesis of this case by genotype-phenotype correlation analysis based on screening of the patient's family members. Prenatal diagnosis for a high-risk fetus in this family was performed by amniotic fluid DNA analysis.

RESULTSThe proband was identified as a patient with severe thalassemia intermedia caused by co-existence of Hb H disease (--(SEA)/-alpha (4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T), whose father was heterozygous for beta thalassemia (beta (CD17A)>T/beta (N)) and alpha-thalassemia trait (--(SEA)/) and the heterozygous for beta thalassemia (beta (IVS2-654C)>T / beta (N)) and silent alpha-thalassemia (-alpha (4.2)/). The result of prenatal diagnosis showed co-existence of beta thalassemia major and silent alpha thalassemia in the high-risk fetus, and the parents requested termination of pregnancy after genetic counseling.

CONCLUSIONWe report for the first time a rare thalassemia intermedia case resulting from 4 complex alpha/beta thalassemia combination and the molecular pathogenesis of thalassemia intermedia is updated in the Chinese population. The practice of prenatal diagnosis in this case may also provide reference for diagnosis of similar cases.

Adult ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Nucleic Acid Hybridization ; methods ; Phenotype ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; alpha-Thalassemia ; complications ; diagnosis ; genetics ; beta-Thalassemia ; complications ; diagnosis ; genetics

OBJECTIVETo conduct molecular and prenatal diagnosis for a couple with β thalassemia.

METHODSBlood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.

RESULTSThe husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.

CONCLUSIONMutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.

Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mutation ; Pregnancy ; Pregnancy Complications, Hematologic ; genetics ; Prenatal Diagnosis ; beta-Thalassemia ; diagnosis ; genetics

Wandering spleen or splenoptosis is an uncommon entity and often an asymptomatic finding of acute abdomen in the emergency department. A high index of suspicion for splenic torsion is required, particularly in patients with known splenomegaly, as this condition could potentially lead to splenic infarction. Recognition of this condition can help avoid potential confusion with acute abdomen of other aetiologies. Herein, we present a unique case of wandering spleen with chronic torsion, which, to the best of our knowledge, has never been described in an elderly patient with haemoglobin H thalassaemia. We also review the literature for the aetiology and pathogenesis of wandering spleen, and discuss the relevant diagnostic modalities and treatment options.
Abdominal Pain ; Aged ; China ; ethnology ; Female ; Hospitals ; Humans ; Singapore ; Thalassemia ; Tomography, X-Ray Computed ; Torsion Abnormality ; complications ; diagnosis ; surgery ; Wandering Spleen ; complications ; diagnosis ; surgery

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