RECIPIENTS:. Must fulfill one disease category from below:. DISEASE SPECIFIC:. Patients with sickle cell disease at high risk for disease related morbidity or mortality, defined by having irreversible end organ damage (A, B, C, D or E) or potentially reversible complication(s) not ameliorated by hydroxyurea (F):. A. Stroke defined as a clinically significant neurologic event that is accompanied by and infarct on cerebral MRI. OR. an abnormal trans-cranial Doppler examination ( greater than or equal to 200m/s);. OR. B. Sickle cell related renal insufficiency defined by a creatinine level greater than or equal to 1.5 times the upper limit of normal and kidney biopsy consistent with sickle cell nephropathy OR nephritic syndrome OR creatinine clearance less than 60mL/min/1.73m(2) for patients less than or equal to 16 years of age or less than 50mL/min for patients greater than or equal to 16 years of age OR requiring peritoneal or hemodialysis. OR. Age is less than or equal to 5 years of age with ...

The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia.

Clinical Trial: Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-Thalassemia. People with anemias often have damage to other organs such as the kidneys, which can be further damaged by the chemotherapy. Only approximately 20 percent of patients have a full-matched donor, making treatment for many people with anemias unavailable. However, 90 percent of patients may have a half-matched donor, but using a half-matched donor increases the toxicity of bone marrow transplantation. This protocol will study if half-matched donor cells, low-intensity radiation, immunosuppressant drugs, and no chemotherapy will be effective in treating patients with sickle cell disease and Beta-thalassemia. The study will also determine the effectiveness of cyclophosphamide, an immunosuppressant drug, in preventing rejection of the donor cells.. View trials at the NIH Clinical Center on Sickle Cell ...

Diamond-Blackfan anemia (DBA) is a severe congenital anemia characterized by a defect in red blood cell production. The disease is associated with growth retardation, malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a.In a cellular model for DBA, siRNA knock-down of RPS19 results in a relative decrease of other ribosomal (r) proteins belonging to the small subunit (RPS20, RPS21, RPS24) when compared to r-proteins from the large ribosomal subunit (RPL3, RPL9, RPL30, RPL38). RPS19 mutant cells from DBA patients show a similar and coordinated down-regulation of small subunit proteins. The mRNA levels of the small subunit r-proteins remain relatively unchanged. We also show that RPS19 has an extensive number of transcriptional start sites resulting in mRNAs of variable 5UTR length. The short variants are translated more efficiently. Structural sequence variations in the ...

Scientists recommend testing for Pearson syndrome in patients with congenital anemia. Some babies diagnosed with and treated for a bone marrow failure disorder, called Diamond Blackfan Anemia, may actually be affected by a very rare anemia syndrome that has a different disease course and treatment, say scientists from Dana-Farber/Boston Childrens Cancer and Blood Disorders Center.. Genetic analysis of DNA from 175 patients believed to have Diamond Blackfan Anemia, identified eight that showed hallmarks of Pearson Marrow Pancreas syndrome, according to research presented at the 55th annual meeting of the American Society of Hematology.. The treatment choices are difficult in both syndromes, but getting the diagnosis correct is crucial, said Suneet Agarwal, MD, PhD, a pediatric hematologist/oncologist at Dana-Farber/Boston Childrens. "Some patients with Diamond Blackfan will respond to steroids, but theres no reason to give steroids to someone with Pearson Syndrome -- and they could make things ...

Background:. A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.. Mutations in IBMFS genes are relevant to carcinogenesis in sporadic cancers.. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer.. These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.. Carriers of IBMFS gene mutations are at increased risk of cancer.. The prototype disorder is Fanconis Anemia (FA); other IBMFS will also be studied.. Objectives:. To determine the types and incidence of specific cancers in patients with an IBMFS.. To investigate the relevance of IBMFS gene mutations in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.. To identify risk factors for IBMFS-related cancers in addition to the primary germline ...

Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, café-au-lait skin lesions, and malfor