by MH Team | Sep 13, 2025 | Red Blood Cells
TL;DR Shwachman-Diamond syndrome or SDS is a rare, autosomal recessive genetic disorder caused by a mutation in the SBDS gene on chromosome 7. Cause ▾: Shwachman-Diamond Syndrome (SDS) is a rare, inherited genetic disorder. It is an autosomal recessive condition...
by MH Team | Sep 11, 2025 | Red Blood Cells
TL;DR Bone marrow failure is the inability of the bone marrow to produce enough mature blood cells, leading to low counts (pancytopenia). Causes ▾: The causes are broadly divided into acquired and inherited. Acquired causes include immune-mediated attacks (aplastic...
by MH Team | Sep 8, 2025 | Red Blood Cells
TL;DR Dyskeratosis congenita is a rare, inherited bone marrow failure syndrome caused by defects in telomere maintenance. This leads to abnormally short telomeres and premature cellular aging, primarily affecting rapidly dividing cells. Key Clinical Manifestations ▾:...
by MH Team | Sep 5, 2025 | White Blood Cells
TL;DR Chediak-Higashi syndrome is a rare, autosomal recessive genetic disorder characterized by defects in lysosomal trafficking. Cause: A mutation in the LYST gene. Pathophysiology ▾: The LYST gene defect leads to the formation of abnormally large, dysfunctional...
by MH Team | Sep 1, 2025 | Red Blood Cells
TL;DR Diamond-Blackfan Anemia or DBA is a rare, congenital blood disorder where the bone marrow fails to produce red blood cells. It is also known as congenital hypoplastic anemia. Causes ▾: The core cause is a defect in ribosome biogenesis, primarily due to mutations...
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