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ALLMedicine™ Diamond-blackfan Anemia Center

Research & Reviews  148 results

Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag
https://clinicaltrials.gov/ct2/show/NCT04269889

May 20th, 2022 - Diamond-Blackfan anemia (DBA) is a heritable bone marrow failure (BMF) syndrome characterized by selective erythroid defects typically presenting within the first year of life as a normochromic, macrocytic anemia with reticulocytopenia. More than ...

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
https://doi.org/10.1182/blood.2021011846
Blood O'Donohue MF, Da Costa LM et. al.

Feb 26th, 2022 - The congenital bone marrow failure syndrome, Diamond-Blackfan anemia (DBA), is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 varia...

De novo TP53 germline activating mutations in two patients with the phenotype mimicking...
https://doi.org/10.1002/pbc.29558
Pediatric Blood & Cancer; Fedorova D, Ovsyannikova G et. al.

Jan 28th, 2022 - Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on mutations in non-RP genes in patients with DBA-like phenotype became available over recent years...

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784725
The American Journal of Case Reports; Mars-Holt E, Murdoch A et. al.

Jan 18th, 2022 - BACKGROUND Diamond-Blackfan anemia (DBA) is a rare genetic disorder associated with macrocytic anemia and reticulocytopenia, with patients usually transfusion-dependent in the first years of life. The disease inheritance is predominantly autosomal...

Transient Erythroblastopenia of Childhood
https://emedicine.medscape.com/article/959644-overview

Dec 16th, 2021 - Practice Essentials Transient erythroblastopenia of childhood (TEC) is a slowly developing anemia that occurs in early childhood and is characterized by a gradual onset of pallor. As the name suggests, all patients with transient erythroblastopeni...

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Drugs  71 results see all →

Clinicaltrials.gov  5 results

Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag
https://clinicaltrials.gov/ct2/show/NCT04269889

May 20th, 2022 - Diamond-Blackfan anemia (DBA) is a heritable bone marrow failure (BMF) syndrome characterized by selective erythroid defects typically presenting within the first year of life as a normochromic, macrocytic anemia with reticulocytopenia. More than ...

Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
https://clinicaltrials.gov/ct2/show/NCT00290628

Nov 29th, 2017 - OBJECTIVES: Primary Determine the engraftment potential of umbilical cord blood (UCB) in patients with hematological cancers. Determine the safety of UCB transplantation in these patients. Secondary Determine the rate of neutrophil and platelet re...

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
https://clinicaltrials.gov/ct2/show/NCT01319851

Jul 27th, 2017 - There are a large number of serious non-malignant diseases of childhood, most of them congenital and rare, which can be corrected by HSCT. These diseases are all characterized by deficiencies, either in number or in function, of marrow derived cel...

Metoclopramide to Treat Anemia in Patients With Myelodysplastic Syndrome (MDS)
https://clinicaltrials.gov/ct2/show/NCT00120653

Jul 2nd, 2017 - Patients with myelodysplastic syndrome (MDS) present with low red blood cells, white blood cells and platelets, alone or in combination. The only definitive treatment is stem cell transplantation. Unfortunately, treatment-related mortality preclud...

Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
https://clinicaltrials.gov/ct2/show/NCT00011505

Mar 4th, 2008 - Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia that generally presents in infancy. The mainstays of treatment, prednisone and transfusion therapy, have long-term toxicity in many patients, and bone marrow transplantation wi...

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News  4 results

Posttransplant Cyclophosphamide for GVHD
https://www.onclive.com/view/posttransplant-cyclophosphamide-for-gvhd

Apr 2nd, 2021 - Transcript: Yi-Bin A. Chen, MD: The use of posttransplant cyclophosphamide-based regimens do prevent graft-versus-host disease. It’s one of the biggest advances in transplant over the past 2 decades. Popularized by our colleagues at The Johns ...

Study of DBA provides new insight into hematopoiesis
https://www.mdedge.com/hematology-oncology/article/185013/anemia/study-dba-provides-new-insight-hematopoiesis
HT Staff

Apr 13th, 2018 - Red blood cells In studying Diamond-Blackfan anemia (DBA), researchers have found evidence to suggest that ribosome levels play a key role in hematopoiesis. The researchers found that a reduction in ribosomes is responsible for the disruption in r.

Model recapitulates cancer susceptibility in DBA
https://www.mdedge.com/hematology-oncology/article/187539/anemia/model-recapitulates-cancer-susceptibility-dba
HT Staff

Oct 20th, 2015 - Lab mouse Researchers say they’ve created the first animal model that recapitulates the predisposition to cancer observed in patients with Diamond-Blackfan anemia (DBA). DBA is caused by mutations in ribosomal genes such as RPL11, so the researche.

An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly
https://www.medscape.com/viewarticle/558731_6

Sep 12th, 2007 - Discussion Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and skeletal abnormalities. It has also been known as "Shwachman syndrome," "Shwachman-Bodian syndr...

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