Paroxysmal nocturnal hemoglobinuria (PNH) is caused by a genetic mutation that occurs in a single blood-forming stem cell in the bone marrow. This mutation affects a gene called **PIGA**, which is located on the X chromosome. The PIGA gene is…
Congenital dyserythropoietic anemia (CDA) is a rare inherited blood disorder that primarily affects the production and maturation of red blood cells in the bone marrow. The hallmark of this condition is ineffective erythropoiesis, meaning the bone marrow produces red blood…
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder caused primarily by mutations in a specific gene called SBDS. This gene plays a crucial role in the normal functioning of cells, especially those involved in the bone marrow and pancreas. When…
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome primarily characterized by a failure to produce enough red blood cells, leading to anemia. However, the complications of DBA extend far beyond just anemia and can affect multiple organ…
Fanconi anemia is caused by inherited mutations in a group of genes responsible for repairing damaged DNA. These genes work together in a complex pathway that detects and fixes breaks in DNA strands, which naturally occur during cell division or…
Bloom syndrome is a rare genetic disorder that manifests through a variety of distinctive signs and symptoms, primarily affecting growth, skin, immune function, and cancer risk. The signs of Bloom syndrome can be understood by looking at its impact on…
Werner syndrome is caused by mutations in a specific gene known as the WRN gene. This gene is responsible for producing a protein called Werner syndrome helicase, which plays a crucial role in maintaining the stability and integrity of our…
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder characterized by rapid premature aging in children. While there is currently no cure for progeria, various treatments exist that aim to slow disease progression, manage symptoms,…
Cockayne syndrome is caused by genetic mutations that impair the body’s ability to repair damaged DNA, specifically affecting a process called transcription-coupled nucleotide excision repair (TC-NER). This repair mechanism is crucial for fixing DNA damage that occurs during normal cellular…
Refsum disease is a rare inherited disorder characterized by the abnormal accumulation of phytanic acid in the body, which leads to a variety of symptoms primarily affecting the nervous system, skin, and eyes. The signs of Refsum disease typically develop…