Hereditary Pyropoikilocytosis (HPP) is a rare genetic disorder which damages red blood cells in the body and causes abnormal shape with increased risk of destruction of cells.
HPP is an autosomal recessive disorder inherited from each parent and is the same gene, which is responsible for hereditary elliptocytosis, a type of RBC disorder.
Individuals with HPP those have abnormal shaped and fragile type of red blood cells which are prone to break them apart.
Epidemiology
The disorder can affect individuals of any ethnic or racial background.
HPP is usually seen in individuals of African region, but it is also documented in individuals of European and Arab region.
Individual with HPP has family history of red blood cell disorders thus every third member from the family of patient diagnosed with hereditary elliptocytosis.
Anatomy
Pathophysiology
HPP is a condition develops from mutations in genes that encode proteins which is required for maintaining the structural integrity of red blood cells.
HPP is a condition occurs due to abnormalities in the interaction between RBC membrane proteins on both horizontal and vertical surfaces.
The altered spectrin proteins in HPP cause a weakened membrane which increased the vulnerability of red blood cells to damage and deformation.
Etiology
Hereditary Pyropoikilocytosis is a subtype of hereditary elliptocytosis, and it is caused by mutations seen in α-spectrin (SPTA1) and β-spectrin (SPTB) genes respectively.
Individuals with only one copy of a mutated gene are asymptomatic carriers in nature and thus they are not appearing on their own.
Genetics
Prognostic Factors
The prognosis of HPP is decided by the frequency and severity of hemolysis which is the responsible for breakdown of red blood cells.
Frequent or severe hemolysis can increase the risk of complications like chronic anemia, jaundice, and splenomegaly in individuals.
Clinical History
Many individuals with HPP shows symptoms during infancy or early childhood.
Physical Examination
CBC test
Cardiovascular Examination
Respiratory System Assessment
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Severe cases of HPP may appear immediately after birth or within the first few days from birth.
HPP symptoms can range from mild to severe and those who required immediate medical attention among affected individuals.
Differential Diagnoses
Hereditary Elliptocytosis
Hereditary Spherocytosis
Autoimmune Hemolytic Anemia
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Cases of Severe anemia or hemolysis are required red blood cell transfusion therapy to restore hemoglobin levels and alleviate symptoms, but they should be administered carefully to prevent iron overload.
Frequent blood transfusions cases should be monitored by medical physician for iron overload which can cause organ damage.
Physicians should suggest folic acid supplementation to support red blood cell production in patients.
Appointments with medical physicians and preventing recurrence of disorder is an ongoing life-long effort.
Physician and consultants should encourage the patients about good hygiene practices and how to minimize exposure to infectious agents which reduces the risk of hemolysis.
Patient should avoid visiting to extreme temperatures like hot and cold places.
Nutritional counselling plays vital role in recovery process of patient as it promotes the nutritional diet including iron, folate, and vitamin B12 which increase red blood cell production.
Sufficient amount of water and fluids intake on regular basis must be followed by patient during period of recovery which reduces risk of any other complications.
Use of Folic acid supplements in treatment of Hereditary Pyropoikilocytosis
Folic acid: It is a cofactor in DNA synthesis and erythropoiesis, and it helps to restores folate and increase the production of new red blood cells in the body. The dose should be taken as per physician advised after consulting the status of physical health.
In the initial diagnosis phase, the physician assess symptoms related to HPP which is followed by diagnostic tests, including complete blood count, peripheral blood smear, and other hematological investigations.
In the next phase, supportive care and preventive measures should be carried out to reduce pain and improve the overall health of patients.
The regular follow-up visits with medical physician is required to check the improvement of patients and newly observed complaints along with treatment response.
Hereditary Pyropoikilocytosis (HPP) is a rare genetic disorder which damages red blood cells in the body and causes abnormal shape with increased risk of destruction of cells.
HPP is an autosomal recessive disorder inherited from each parent and is the same gene, which is responsible for hereditary elliptocytosis, a type of RBC disorder.
Individuals with HPP those have abnormal shaped and fragile type of red blood cells which are prone to break them apart.
The disorder can affect individuals of any ethnic or racial background.
HPP is usually seen in individuals of African region, but it is also documented in individuals of European and Arab region.
Individual with HPP has family history of red blood cell disorders thus every third member from the family of patient diagnosed with hereditary elliptocytosis.
HPP is a condition develops from mutations in genes that encode proteins which is required for maintaining the structural integrity of red blood cells.
HPP is a condition occurs due to abnormalities in the interaction between RBC membrane proteins on both horizontal and vertical surfaces.
The altered spectrin proteins in HPP cause a weakened membrane which increased the vulnerability of red blood cells to damage and deformation.
Hereditary Pyropoikilocytosis is a subtype of hereditary elliptocytosis, and it is caused by mutations seen in α-spectrin (SPTA1) and β-spectrin (SPTB) genes respectively.
Individuals with only one copy of a mutated gene are asymptomatic carriers in nature and thus they are not appearing on their own.
The prognosis of HPP is decided by the frequency and severity of hemolysis which is the responsible for breakdown of red blood cells.
Frequent or severe hemolysis can increase the risk of complications like chronic anemia, jaundice, and splenomegaly in individuals.
Many individuals with HPP shows symptoms during infancy or early childhood.
CBC test
Cardiovascular Examination
Respiratory System Assessment
Severe cases of HPP may appear immediately after birth or within the first few days from birth.
HPP symptoms can range from mild to severe and those who required immediate medical attention among affected individuals.
Hereditary Elliptocytosis
Hereditary Spherocytosis
Autoimmune Hemolytic Anemia
Cases of Severe anemia or hemolysis are required red blood cell transfusion therapy to restore hemoglobin levels and alleviate symptoms, but they should be administered carefully to prevent iron overload.
Frequent blood transfusions cases should be monitored by medical physician for iron overload which can cause organ damage.
Physicians should suggest folic acid supplementation to support red blood cell production in patients.
Appointments with medical physicians and preventing recurrence of disorder is an ongoing life-long effort.
Hematology
Physician and consultants should encourage the patients about good hygiene practices and how to minimize exposure to infectious agents which reduces the risk of hemolysis.
Patient should avoid visiting to extreme temperatures like hot and cold places.
Nutritional counselling plays vital role in recovery process of patient as it promotes the nutritional diet including iron, folate, and vitamin B12 which increase red blood cell production.
Sufficient amount of water and fluids intake on regular basis must be followed by patient during period of recovery which reduces risk of any other complications.
Hematology
Folic acid: It is a cofactor in DNA synthesis and erythropoiesis, and it helps to restores folate and increase the production of new red blood cells in the body. The dose should be taken as per physician advised after consulting the status of physical health.
Splenectomy is a surgical procedure in which surgeons remove the spleen of individuals who has severe splenomegaly and recurrent hemolytic episodes.
This surgical procedure is performed under general anesthesia, and it involves the removal of the spleen through an abdominal incision.
Hematology
In the initial diagnosis phase, the physician assess symptoms related to HPP which is followed by diagnostic tests, including complete blood count, peripheral blood smear, and other hematological investigations.
In the next phase, supportive care and preventive measures should be carried out to reduce pain and improve the overall health of patients.
The regular follow-up visits with medical physician is required to check the improvement of patients and newly observed complaints along with treatment response.
Hereditary Pyropoikilocytosis (HPP) is a rare genetic disorder which damages red blood cells in the body and causes abnormal shape with increased risk of destruction of cells.
HPP is an autosomal recessive disorder inherited from each parent and is the same gene, which is responsible for hereditary elliptocytosis, a type of RBC disorder.
Individuals with HPP those have abnormal shaped and fragile type of red blood cells which are prone to break them apart.
The disorder can affect individuals of any ethnic or racial background.
HPP is usually seen in individuals of African region, but it is also documented in individuals of European and Arab region.
Individual with HPP has family history of red blood cell disorders thus every third member from the family of patient diagnosed with hereditary elliptocytosis.
HPP is a condition develops from mutations in genes that encode proteins which is required for maintaining the structural integrity of red blood cells.
HPP is a condition occurs due to abnormalities in the interaction between RBC membrane proteins on both horizontal and vertical surfaces.
The altered spectrin proteins in HPP cause a weakened membrane which increased the vulnerability of red blood cells to damage and deformation.
Hereditary Pyropoikilocytosis is a subtype of hereditary elliptocytosis, and it is caused by mutations seen in α-spectrin (SPTA1) and β-spectrin (SPTB) genes respectively.
Individuals with only one copy of a mutated gene are asymptomatic carriers in nature and thus they are not appearing on their own.
The prognosis of HPP is decided by the frequency and severity of hemolysis which is the responsible for breakdown of red blood cells.
Frequent or severe hemolysis can increase the risk of complications like chronic anemia, jaundice, and splenomegaly in individuals.
Many individuals with HPP shows symptoms during infancy or early childhood.
CBC test
Cardiovascular Examination
Respiratory System Assessment
Severe cases of HPP may appear immediately after birth or within the first few days from birth.
HPP symptoms can range from mild to severe and those who required immediate medical attention among affected individuals.
Hereditary Elliptocytosis
Hereditary Spherocytosis
Autoimmune Hemolytic Anemia
Cases of Severe anemia or hemolysis are required red blood cell transfusion therapy to restore hemoglobin levels and alleviate symptoms, but they should be administered carefully to prevent iron overload.
Frequent blood transfusions cases should be monitored by medical physician for iron overload which can cause organ damage.
Physicians should suggest folic acid supplementation to support red blood cell production in patients.
Appointments with medical physicians and preventing recurrence of disorder is an ongoing life-long effort.
Hematology
Physician and consultants should encourage the patients about good hygiene practices and how to minimize exposure to infectious agents which reduces the risk of hemolysis.
Patient should avoid visiting to extreme temperatures like hot and cold places.
Nutritional counselling plays vital role in recovery process of patient as it promotes the nutritional diet including iron, folate, and vitamin B12 which increase red blood cell production.
Sufficient amount of water and fluids intake on regular basis must be followed by patient during period of recovery which reduces risk of any other complications.
Hematology
Folic acid: It is a cofactor in DNA synthesis and erythropoiesis, and it helps to restores folate and increase the production of new red blood cells in the body. The dose should be taken as per physician advised after consulting the status of physical health.
Splenectomy is a surgical procedure in which surgeons remove the spleen of individuals who has severe splenomegaly and recurrent hemolytic episodes.
This surgical procedure is performed under general anesthesia, and it involves the removal of the spleen through an abdominal incision.
Hematology
In the initial diagnosis phase, the physician assess symptoms related to HPP which is followed by diagnostic tests, including complete blood count, peripheral blood smear, and other hematological investigations.
In the next phase, supportive care and preventive measures should be carried out to reduce pain and improve the overall health of patients.
The regular follow-up visits with medical physician is required to check the improvement of patients and newly observed complaints along with treatment response.
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