Pancytopenia

Pancytopenia

TL;DR Pancytopenia is the reduction of all three major blood cell lines: red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). It is a clinical finding, not a disease itself, indicating an underlying issue. Causes ▾ : The causes...
Shwachman-Diamond Syndrome (SDS)

Shwachman-Diamond Syndrome (SDS)

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...
Bone Marrow Failure

Bone Marrow Failure

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...
Dyskeratosis Congenita

Dyskeratosis Congenita

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 ▾:...
Chediak-Higashi Syndrome

Chediak-Higashi Syndrome

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...