Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation

Review Biophysics

Effects of donor-specific antibodies on engraftment and long-term survival after allogeneic hematopoietic stem cell transplantation-A systematic review and meta-analysis

Yarui Huang et al.

Summary: The presence of donor-specific antibodies (DSAs) has been associated with an increased risk of primary graft failure after allo-HSCT, but its effects on engraftment time and long-term outcomes remain unclear.

BONE MARROW TRANSPLANTATION (2023)

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Article Hematology

First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation

Shanshan Li et al.

Summary: Mutations in the HBB gene can cause a variety of diseases, with rare types of hemolytic anemia such as hemoglobin Bristol-Alesha having no ideal treatment in clinic. However, hematopoietic stem cell transplantation has been shown to be an effective and curable method for these rare types of anemia.

ANNALS OF HEMATOLOGY (2022)

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Review Biophysics

The impact of HLA donor-specific antibodies on engraftment and the evolving desensitization strategies

Brittany File et al.

Summary: This article provides an update on the testing and monitoring of donor-specific anti-HLA antibodies (DSA) in contemporary allogeneic hematopoietic stem cell transplantation (HCT) procedures. It reviews the impact of DSA on stem cell engraftment and presents promising desensitization modalities. The article aims to provide practical recommendations for DSA screening and mitigation strategies.

BONE MARROW TRANSPLANTATION (2022)

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Article Hematology

TCRαβ/CD19 depleted HSCT from an HLA-haploidentical relative to treat children with different nonmalignant disorders

Pietro Merli et al.

Summary: The study confirms that TCRab/CD19-depleted haploidentical HSCT from an HLA-partially matched relative is an effective treatment for children with NMDs. Prompt donor availability, low incidence of acute GVHD, and TRM make this strategy an attractive option for NMDs patients.

BLOOD ADVANCES (2022)

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Article Hematology

Haemoglobin Bristol-Alesha in a child with non-spherocytic severe haemolytic anaemia and marked anisochromic poikilocytosis with basophilic stippling and amorphous intracellular content

Joan-Lluis Vives Corrons et al.

Summary: This article describes a case of a 10-year-old girl with severe haemolytic anaemia of unknown etiology, later diagnosed with an unstable haemoglobinopathy through blood film examination and molecular genetic testing. It highlights the importance of including haemoglobin stability testing in the diagnostic approach of hemolytic anaemias of unknown etiology.

BLOOD CELLS MOLECULES AND DISEASES (2022)

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Article Biophysics

Thalassemia-free and graft-versus-host-free survival: outcomes of hematopoietic stem cell transplantation for thalassemia major, Turkish experience

M. Akif Yesilipek et al.

Summary: The study analyzed national data on hematopoietic stem cell transplantation for thalassemia major patients in Turkey, finding that transplanting before the age of 7 with a matched donor can improve outcomes, and that different time points and donor types have varying impacts on transplant results.

BONE MARROW TRANSPLANTATION (2022)

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Review Biochemistry & Molecular Biology

Thalassemias: from gene to therapy

Giovanna De Simone et al.

Summary: Thalassemias are the most common genetic disorders worldwide, characterized by the deficient synthesis of one or more hemoglobin (Hb) chain(s). They result from many different genetic and molecular defects and can manifest as severe or clinically silent hematologic phenotypes. Thalassemias alpha and beta are particularly prevalent in Mediterranean and surrounding regions. Traditional treatments such as RBC transfusions, iron chelation therapy, splenectomy, and hematopoietic stem cell transplantation are challenged by the rapidly evolving fields of gene therapy and gene editing strategies.

MOLECULAR ASPECTS OF MEDICINE (2022)

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Article Pediatrics

Successful haploidentical hematopoietic stem cell transplantation (HSCT) and durable engraftment by repeated donor lymphocyte infusions for a Chinese patient with transfusion-dependent hemoglobin (Hb) Hammersmith and massive splenomegaly

Wilson Y. K. Chan et al.

Summary: This article reports a successful treatment of a patient with hemoglobin Hammersmith through haploidentical hematopoietic stem cell transplantation (HSCT). Prior to the transplant, the patient was unable to receive the desired blood transfusion due to social and geographical reasons, leading to bone marrow hyperplasia and progressive splenomegaly. With a more intensive transfusion regimen and preconditioning chemotherapy, the patient underwent the transplant and achieved successful engraftment.

PEDIATRIC TRANSPLANTATION (2022)

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Article Hematology

An overview of red blood cell and platelet alloimmunisation in transfusion

Olivier Garraud et al.

Summary: Post-transfusion alloimmunisation is the main complication observed after blood transfusion, including red blood cell and platelet transfusions. Residual leukocytes in the transfused products are a major cause of alloimmunisation, highlighting the importance of leukoreduction during blood product preparation. Preexisting maternal-fetal immunization can complicate transfusion programs and increase the risk of producing alloantibodies. Patients with certain hemoglobin diseases are at higher risk of alloimmunisation and require stricter transfusion rules.

TRANSFUSION CLINIQUE ET BIOLOGIQUE (2022)

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Review Immunology

Donor specific HLA antibody in hematopoietic stem cell transplantation: Implications for donor selection

Scott M. Krummey et al.

Summary: Advances in hematopoietic stem cell transplant have led to changes in donor selection approach, including the use of haploidentical donors or permissive HLA mismatches. However, this may increase the risk of donor-specific HLA antibodies, which can limit engraftment. Desensitization treatments can effectively reduce HLA antibodies and improve transplant outcomes. The consideration and management of HLA antibodies in donor selection are increasingly important in HSCT.

FRONTIERS IN IMMUNOLOGY (2022)

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Article Biophysics

Survival and late effects of hematopoietic cell transplantation in patients with thalassemia major

Stella Santarone et al.

Summary: In this study, the long-term survival and late effects of allogeneic hematopoietic cell transplantation (HCT) in patients with thalassemia major (TM) were evaluated. The majority of patients survived and were cured after HCT, but there were significant rates of early and late mortality. Late effects included dysfunction in multiple systems and secondary solid cancer.

BONE MARROW TRANSPLANTATION (2022)

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Article Pediatrics

Hematopoietic stem cell transplantation for thalassemia major using HLA fully-matched and mismatched donor grafts

Chuwen Huang et al.

Summary: This study investigated the outcomes of different donor grafts (fully-matched and mismatched) for patients with beta-thalassemia major and concluded that, based on a specific conditioning regimen, mismatched donor graft transplantation could achieve similar results as fully-matched donor graft transplantation.

TRANSLATIONAL PEDIATRICS (2021)

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Review Medicine, General & Internal

β-Thalassemias

Ali T. Taher et al.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Article Immunology

The impact of different doses of antithymocyte globulin conditioning on immune reconstitution upon hematopoietic stem cell transplantation

Yahan Li et al.

Summary: ATG therapy at higher and lower doses led to a delayed reconstitution of T cells and the inversion of CD4/CD8 ratio for at least one year after HSCT.

TRANSPLANT IMMUNOLOGY (2021)

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Article Physiology

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

Valeria Rizzuto et al.

Summary: Unstable hemoglobinopathies (UHs) are rare anemia disorders characterized by abnormal hemoglobin variants with decreased stability, easily causing hemolysis. Diagnosis of UHs requires a high index of suspicion by the treating physician, highlighting the importance of next generation sequencing (NGS) methodologies.

FRONTIERS IN PHYSIOLOGY (2021)

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Article Biophysics

Successful mismatched hematopoietic stem cell transplantation for pediatric hemoglobinopathy by using ATG and post-transplant cyclophosphamide

Lisa V. E. Oostenbrink et al.

Summary: The use of mismatched unrelated or haploidentical donors in combination with ATG and PT-CY for pediatric patients with hemoglobinopathies can be considered a safe and effective treatment option when an HLA-identical or matched unrelated donor is not available.

BONE MARROW TRANSPLANTATION (2021)

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Review Biophysics

HSCT remains the only cure for patients with transfusion-dependent thalassemia until gene therapy strategies are proven to be safe

Christina Oikonomopoulou et al.

Summary: Patients with beta-thalassemia often undergo HSCT or gene therapy to treat the disease and improve survival rates. Currently, besides HLA-matched sibling donors, fully matched unrelated donors and haploidentical donors have also become treatment options. Gene therapy, as a novel approach, has shown impressive results in clinical trials.

BONE MARROW TRANSPLANTATION (2021)

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Article Immunology

Haploidentical Hematopoietic Cell Transplantation Using Post-transplant Cyclophosphamide for Children with Non-malignant Diseases

Hasan Hashem et al.

Summary: Haploidentical hematopoietic cell transplantation (HCT) using post-transplant cyclophosphamide (PTCy) is a valuable curative option for children with non-malignant diseases when an HLA-matched donor is not available. Younger age at HCT (<4 years) and primary immunodeficiency are significantly associated with better survival outcomes. Early diagnosis, timely treatment, and referral can further improve outcomes for these children.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Review Oncology

The consensus from The Chinese Society of Hematology on indications, conditioning regimens and donor selection for allogeneic hematopoietic stem cell transplantation: 2021 update

Xiao-hui Zhang et al.

Summary: The recent updated consensus recommendations from The Chinese Society of Hematology on allogeneic hematopoietic stem cell transplantation (allo-HSCT) include a new donor selection algorithm, encouraging salvage treatment with novel immunotherapies, and reflecting additional evidence for specific patient groups in transplantation application.

JOURNAL OF HEMATOLOGY & ONCOLOGY (2021)

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Article Biochemistry & Molecular Biology

Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda Giardine et al.

Summary: HbVar is a widely used locus-specific database that provides information on genomic variants related to hemoglobin variants and thalassemia. The database has been updated with clinically relevant information, improved querying options, user-friendly interface, and expanded data content for increased utility in clinical settings.

NUCLEIC ACIDS RESEARCH (2021)

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Review Biophysics

The European Society for Blood and Marrow Transplantation (EBMT) consensus recommendations for donor selection in haploidentical hematopoietic cell transplantation

Stefan O. Ciurea et al.

BONE MARROW TRANSPLANTATION (2020)

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Review Hematology

Curative options for sickle cell disease: haploidentical stem cell transplantation or gene therapy?

Alexis Leonard et al.

BRITISH JOURNAL OF HAEMATOLOGY (2020)

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Letter Hematology

Long-term results of the NF-08-TMprotocol in stem cell transplant for patients with thalassemia major: A multi-center large-sample study

Yuelin He et al.

AMERICAN JOURNAL OF HEMATOLOGY (2020)

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Review Hematology

Transfusion-related red blood cell alloantibodies: induction and consequences

Christopher A. Tormey et al.

BLOOD (2019)

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Article Oncology

Rare Hereditary Hemolytic Anemias Diagnostic Approach and Considerations in Management

Mary Risinger et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2019)

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Article Biochemistry & Molecular Biology

Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene

Qiong Su et al.

HEMOGLOBIN (2019)

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Article Hematology

Immune recovery after in vivo T-cell depletion myeloablative conditioning hematopoietic stem cell transplantation in severe beta-thalassemia children

Fang Qin et al.

EUROPEAN JOURNAL OF HAEMATOLOGY (2019)

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Review Biophysics

HLA-haploidentical hematopoietic stem cell transplantation in pediatric patients with hemoglobinopathies: current practice and new approaches

Lena Oevermann et al.

BONE MARROW TRANSPLANTATION (2019)

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Review Biophysics

The European Society for Blood and Marrow Transplantation (EBMT) Consensus Guidelines for the Detection and Treatment of Donor-specific Anti-HLA Antibodies (DSA) in Haploidentical Hematopoietic Cell Transplantation

Stefan O. Ciurea et al.

BONE MARROW TRANSPLANTATION (2018)

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Article Immunology

Prevalence and risk factors of antibodies to human leukocyte antigens in haploidentical stem cell transplantation candidates: A multi-center study

Ming-Rui Huo et al.

HUMAN IMMUNOLOGY (2018)

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Editorial Material Immunology

Haploidentical Stem Cell Transplantation With TCR Alpha/Beta and CD19 Depletion in a Case of Unstable Hemoglobin Disease

Karunakumar Kumar et al.

TRANSPLANTATION (2018)

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Article Hematology

HaploidenticalHSCT for hemoglobinopathies: improved outcomes with TCRαβ+/CD19+-depleted grafts

Javid Gaziev et al.

BLOOD ADVANCES (2018)

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Article Hematology

Sickle cell disease: an international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

Eliane Gluckman et al.

BLOOD (2017)

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Article Biochemistry & Molecular Biology

Coinheritance of Hb Bristol-Alesha [beta 67(E11)Val -> Met; HBB: c.202G > A] and the alpha 212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

Gisele A. Pedroso et al.

HEMOGLOBIN (2017)

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Article Biophysics

Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010

D. Baronciani et al.

BONE MARROW TRANSPLANTATION (2016)

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Article Biochemistry & Molecular Biology

Hb Alesha [β67( E11) Val→Met (GTG> ATG); HBB: c. 202G> A] Found in a Chinese Girl

Hua Jiang et al.

HEMOGLOBIN (2016)

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Review Immunology

Antithymocyte globulin in allogeneic hematopoietic cell transplantation: benefits and limitations

Taiga Nishihori et al.

IMMUNOTHERAPY (2016)

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Review Hematology

Estimating tissue iron burden: current status and future prospects

John C. Wood

BRITISH JOURNAL OF HAEMATOLOGY (2015)

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Article Oncology

Donor-specific anti-human leukocyte antigen antibodies were associated with primary graft failure after unmanipulated haploidentical blood and marrow transplantation: a prospective study with randomly assigned training and validation sets

Ying-Jun Chang et al.

JOURNAL OF HEMATOLOGY & ONCOLOGY (2015)

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Article Education, Scientific Disciplines

Diagnosis and management of rare congenital nonimmune hemolytic disease

Patrick G. Gallagher

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2015)

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Article Biochemistry & Molecular Biology

Post-translational Transformation of Methionine to Aspartate Is Catalyzed by Heme Iron and Driven by Peroxide A NOVEL SUBUNIT-SPECIFIC MECHANISM IN HEMOGLOBIN

Michael Brad Strader et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

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Article Oncology

Novel dominant -thalassemia: Hb Boston-Kuwait [Codon 139/140(+T)]

Stacy E. Croteau et al.

PEDIATRIC BLOOD & CANCER (2013)

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Article Medicine, Research & Experimental

Hemoglobin Variants: Biochemical Properties and Clinical Correlates

Christopher S. Thom et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2013)

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Article Hematology

A novel conditioning regimen improves outcomes in β-thalassemia major patients using unrelated donor peripheral blood stem cell transplantation

Chunfu Li et al.

BLOOD (2012)

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Article Biochemistry & Molecular Biology

Hb Alesha [beta 67(E11)Val -> Met, GTG -> ATG] in an Argentinean girl

Silvia Eandi Eberle et al.

HEMOGLOBIN (2007)

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Article Oncology

Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha

K Brockmann et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2005)

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Article Hematology

Hb Bristol-Alesba presenting thalassemia-type hyperunstable hemoglobinopathy

G Kano et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2004)

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Article Oncology

Allogeneic bone marrow transplantation in a child with hemoglobinopathy Olmsted

C Urban et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2002)

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Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation

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