Hereditary pyropoikilocytosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Hereditary pyropoikilocytosis | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Hereditary pyropoikilocytosis is inherited in an [[autosomal recessive]] pattern. | |||
| field = [[Hematology]] | |||
| symptoms = [[Hemolytic anemia]], [[jaundice]], [[splenomegaly]], [[fatigue]] | |||
| complications = [[Gallstones]], [[iron overload]] | |||
| onset = [[Infancy]] or [[early childhood]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[spectrin]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood smear]], [[complete blood count]], [[genetic testing]] | |||
| differential = [[Hereditary spherocytosis]], [[hereditary elliptocytosis]], [[pyruvate kinase deficiency]] | |||
| treatment = [[Blood transfusion]], [[splenectomy]], [[folic acid]] supplementation | |||
| medication = | |||
| prognosis = Variable, can be severe | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Hereditary Pyropoikilocytosis''' is a rare, inherited blood disorder characterized by anemia, abnormally shaped red blood cells, and an increased susceptibility to infection. This condition is a severe form of [[Hereditary Elliptocytosis]] and is caused by mutations in the SPTA1 or SPTB gene. | '''Hereditary Pyropoikilocytosis''' is a rare, inherited blood disorder characterized by anemia, abnormally shaped red blood cells, and an increased susceptibility to infection. This condition is a severe form of [[Hereditary Elliptocytosis]] and is caused by mutations in the SPTA1 or SPTB gene. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Hereditary Pyropoikilocytosis typically appear in infancy and can vary in severity. They may include: | The symptoms of Hereditary Pyropoikilocytosis typically appear in infancy and can vary in severity. They may include: | ||
* [[Anemia]] - A condition in which the body does not have enough healthy red blood cells. | * [[Anemia]] - A condition in which the body does not have enough healthy red blood cells. | ||
* [[Jaundice]] - A yellowing of the skin and eyes. | * [[Jaundice]] - A yellowing of the skin and eyes. | ||
* [[Splenomegaly]] - An enlargement of the spleen. | * [[Splenomegaly]] - An enlargement of the spleen. | ||
* Increased susceptibility to [[Infection]] - Due to the reduced number of healthy red blood cells. | * Increased susceptibility to [[Infection]] - Due to the reduced number of healthy red blood cells. | ||
== Causes == | == Causes == | ||
Hereditary Pyropoikilocytosis is caused by mutations in the [[SPTA1]] or [[SPTB]] gene. These genes provide instructions for making proteins that are part of the cytoskeleton of red blood cells. Mutations in these genes disrupt the structure of these cells, leading to the characteristic features of this disorder. | Hereditary Pyropoikilocytosis is caused by mutations in the [[SPTA1]] or [[SPTB]] gene. These genes provide instructions for making proteins that are part of the cytoskeleton of red blood cells. Mutations in these genes disrupt the structure of these cells, leading to the characteristic features of this disorder. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Hereditary Pyropoikilocytosis is based on a complete medical history, a physical examination, and specialized blood tests. These tests can reveal the characteristic abnormally shaped red blood cells of this disorder. | Diagnosis of Hereditary Pyropoikilocytosis is based on a complete medical history, a physical examination, and specialized blood tests. These tests can reveal the characteristic abnormally shaped red blood cells of this disorder. | ||
== Treatment == | == Treatment == | ||
Treatment for Hereditary Pyropoikilocytosis is aimed at managing the symptoms and preventing complications. This may include: | Treatment for Hereditary Pyropoikilocytosis is aimed at managing the symptoms and preventing complications. This may include: | ||
* [[Blood transfusion]] - To increase the number of healthy red blood cells in the body. | * [[Blood transfusion]] - To increase the number of healthy red blood cells in the body. | ||
* [[Splenectomy]] - Surgical removal of the spleen, which can improve anemia in some cases. | * [[Splenectomy]] - Surgical removal of the spleen, which can improve anemia in some cases. | ||
* [[Antibiotics]] - To prevent or treat infections. | * [[Antibiotics]] - To prevent or treat infections. | ||
== See Also == | == See Also == | ||
* [[Hereditary Elliptocytosis]] | * [[Hereditary Elliptocytosis]] | ||
* [[SPTA1]] | * [[SPTA1]] | ||
* [[SPTB]] | * [[SPTB]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 20:17, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hereditary pyropoikilocytosis | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hemolytic anemia, jaundice, splenomegaly, fatigue |
| Complications | Gallstones, iron overload |
| Onset | Infancy or early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the spectrin gene |
| Risks | Family history of the condition |
| Diagnosis | Blood smear, complete blood count, genetic testing |
| Differential diagnosis | Hereditary spherocytosis, hereditary elliptocytosis, pyruvate kinase deficiency |
| Prevention | N/A |
| Treatment | Blood transfusion, splenectomy, folic acid supplementation |
| Medication | |
| Prognosis | Variable, can be severe |
| Frequency | Rare |
| Deaths | |
Hereditary Pyropoikilocytosis is a rare, inherited blood disorder characterized by anemia, abnormally shaped red blood cells, and an increased susceptibility to infection. This condition is a severe form of Hereditary Elliptocytosis and is caused by mutations in the SPTA1 or SPTB gene.
Symptoms[edit]
The symptoms of Hereditary Pyropoikilocytosis typically appear in infancy and can vary in severity. They may include:
- Anemia - A condition in which the body does not have enough healthy red blood cells.
- Jaundice - A yellowing of the skin and eyes.
- Splenomegaly - An enlargement of the spleen.
- Increased susceptibility to Infection - Due to the reduced number of healthy red blood cells.
Causes[edit]
Hereditary Pyropoikilocytosis is caused by mutations in the SPTA1 or SPTB gene. These genes provide instructions for making proteins that are part of the cytoskeleton of red blood cells. Mutations in these genes disrupt the structure of these cells, leading to the characteristic features of this disorder.
Diagnosis[edit]
Diagnosis of Hereditary Pyropoikilocytosis is based on a complete medical history, a physical examination, and specialized blood tests. These tests can reveal the characteristic abnormally shaped red blood cells of this disorder.
Treatment[edit]
Treatment for Hereditary Pyropoikilocytosis is aimed at managing the symptoms and preventing complications. This may include:
- Blood transfusion - To increase the number of healthy red blood cells in the body.
- Splenectomy - Surgical removal of the spleen, which can improve anemia in some cases.
- Antibiotics - To prevent or treat infections.
