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   Articles with "hereditary hemolytic" as a keyword



Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study.

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recommendations! Published in 2022 at "Birth defects research"

DOI: 10.1002/bdr2.2000

Abstract: OBJECTIVES Hereditary hemolytic anemia (HHA) results from genetic mutations that cause red blood cell abnormalities. Little research exists on the relationship between HHA and birth defects. Using data from the National Birth Defects Prevention Study… read more here.

Keywords: hereditary hemolytic; hha exposed; birth defects; hemolytic anemia ... See more keywords

Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect

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recommendations! Published in 2024 at "Hemoglobin"

DOI: 10.1080/03630269.2024.2427187

Abstract: Abstract PIEZO1 (piezo-type mechanosensitive ion channel component 1) is a mechanosensitive ion channel protein. Gain-of-function variants in the PIEZO1 gene are known to cause dehydrated hereditary stomatocytosis (DHS) also termed hereditary xerocytosis. This is a… read more here.

Keywords: due piezo1; hereditary hemolytic; anemia; anemia due ... See more keywords

Screening tools for hereditary hemolytic anemia: new concepts and strategies

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recommendations! Published in 2021 at "Expert Review of Hematology"

DOI: 10.1080/17474086.2021.1886919

Abstract: Abstract Introduction Hereditary hemolytic anemias are a group of rare and heterogeneous disorders due to abnormalities in structure, metabolism, and transport functions of erythrocytes; they may overlap in clinical and hematological features making differential diagnosis… read more here.

Keywords: tools hereditary; hemolytic anemias; screening tools; hemolytic anemia ... See more keywords

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

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recommendations! Published in 2023 at "European Journal of Haematology"

DOI: 10.1111/ejh.13951

Abstract: Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia. read more here.

Keywords: hereditary hemolytic; clinical utility; utility targeted; next generation ... See more keywords