Nocturnal Paroxysmal Hemoglobinuria is a rare blood disorder that affects the red blood cells. The word is spelled as [nɑkˈtɝnəl pəˌrɑksɪzməl ˌhiməˌɡloʊbɪnˈjʊriə] in IPA phonetic transcription. The pronunciation of the word can be quite tricky due to the combination of difficult phonemes. 'Nocturnal' is pronounced as [nɑkˈtɝnəl], 'Paroxysmal' as [pəˌrɑksɪzməl], and 'Hemoglobinuria' as [ˌhiməˌɡloʊbɪnˈjʊriə]. The correct spelling of the word can be challenging for healthcare professionals,
Nocturnal Paroxysmal Hemoglobinuria (PNH) is a rare acquired blood disorder characterized by the abnormal breakdown of red blood cells (hemolysis), which occurs mainly at night while an individual is asleep. This condition is caused by a mutation in the gene responsible for the production of proteins on the surface of blood cells. Specifically, PNH affects the production of a protein called complement decay-accelerating factor (CD55) that protects red blood cells from the immune system.
During sleep, when the immune system is less active, PNH causes the red blood cells to become more susceptible to destruction by the immune system, resulting in the release of excessive amounts of hemoglobin into the bloodstream. The symptoms of PNH can include dark urine due to the presence of hemoglobin, fatigue, shortness of breath, pale skin, abdominal pain, and blood clots.
Diagnosis of PNH is usually done through blood tests that measure the levels of specific molecules on the surface of red blood cells. Treatment options for PNH include blood transfusions to replace damaged red blood cells, medications to prevent blood clots, and targeted therapy to block the breakdown of red blood cells. In severe cases, bone marrow transplantation may be considered as a curative option. Regular monitoring and management of symptoms are necessary to ensure a better quality of life for individuals with PNH.