Microangiopathic Hemolytic Anemia (MAHA)

Microangiopathic Hemolytic Anemia (MAHA)

TL;DR Microangiopathic hemolytic anemia or MAHA is a syndrome defined by a triad of microangiopathic damage, hemolytic anemia, and thrombocytopenia, all resulting from the physical fragmentation of red blood cells in small blood vessels. Pathophysiology ▾: The...
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...
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...
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...
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...
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