About nonspherocytic hemolytic anemia congenit...

What is nonspherocytic hemolytic anemia congenit...?

Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia); abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal enlargement of the spleen (splenomegaly); and/or other abnormalities. Pyruvate kinase deficiency is inherited as an autosomal recessive genetic trait. It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders.

What are the symptoms for nonspherocytic hemolytic anemia congenit...?

Arrhythmia (abnormal heart rhythm) symptom was found in the nonspherocytic hemolytic anemia congenit... condition

People with hereditary nonspherocytic hemolytic Anemia may experience yellowing of the skin (jaundice), Tiredness, a large spleen (splenomegaly) and/or liver (hepatomegaly).

People with Anemia may have the following results in bloodwork: increase in immature red blood cells (reticulocytosis), decrease in mature red blood cells (Anemia), increased lactate dehydrogenase and increased bilirubin.

What are the causes for nonspherocytic hemolytic anemia congenit...?

Hereditary nonspherocytic hemolytic anemias are inherited disorders, meaning they are caused by a harmful change (mutation) in a specific gene. Many different genes can cause different types of hereditary anemia. The specific gene involved determines the exact type of anemia a person has, and how it is inherited. A mutation can cause a gene to not work properly, meaning the person’s body does not produce enough of related protein. In some anemias, this leads to a fragile membrane, or outer layer, of the red blood cells, causing the cells to die more quickly. In other types of anemia, the gene change causes a problem with the way red blood cells get the energy they need to function properly. Some people with a non-working gene only have symptoms of hereditary nonsphyrocytic hemolytic anemia after a trigger, such as an illness, taking a certain medication or eating specific foods.

Some forms of hereditary nonsphyrocytic hemolytic anemia are inherited as recessive disorders. Recessive genetic disorders occur when a person inherits a non-working gene from each parent. If a person receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The chance for two carrier parents to both pass on the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

Other types of anemia are inherited as dominant conditions. Dominant genetic conditions occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a new gene change in that person. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

There are some types of hereditary nonspherocytic hemolytic anemia that are X-linked disorders. X-linked genetic disorders are conditions caused by a non-working gene on the X chromosome and manifest mostly in males. Females that have a non-working gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the non-working gene. Males have only one X chromosome that is inherited from their mother, and a Y chromosome that is inherited from their father. If a male inherits an X chromosome that contains a non-working gene he will develop the disease. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son. If a male with an X-linked disorder is able to reproduce, he will pass the non-working gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

What are the treatments for nonspherocytic hemolytic anemia congenit...?

For some people with hereditary nonspherocytic hemolytic anemia, symptoms are mild, and no specific treatment is needed. Others require regular blood transfusions to replace red blood cells. People should avoid any drugs or foods that trigger their anemia, such as certain antibiotics. For some people with severe anemia, removal of the spleen (splenectomy) is considered. However, splenectomy can have complications, and is not appropriate for all types of hereditary nonspherocytic hemolytic anemia.

What are the risk factors for nonspherocytic hemolytic anemia congenit...?

Red blood cell premature damage is the primary characteristic of a condition known as Nonspherocytic congenital hemolytic anemia.

  • The body's red blood cells carry oxygen around. Thus, congenital hemolytic anemia is the result of red blood cells being destroyed too early.
  • Nonspherocytic denotes that the red blood cells are not spherical like typical red blood cells.
  • These characteristics are present in all of the more than 16 diseases that are classified as hereditary nonspherocytic hemolytic anemia.
  • While some people experience symptoms from infancy, others do not experience symptoms until they are adults.

Risk factors for nonspherocytic congenital hemolytic anemia

  • Nonspherocytic congenital hemolytic anemia can have recessive inheritance patterns in some cases as abnormalities are passed down through the family.
  • When a person inherits a dysfunctional gene from each parent, they develop recessive genetic diseases. A person will be a carrier for the disease but, typically, not exhibit any symptoms if they have one healthy gene and one problematic gene for it.
  • With each pregnancy, there is a 25% risk that two carrier parents will also pass on the problematic gene, resulting in a detected child.
  • With every pregnancy, there is a 50% chance that the unborn kid will also be a carrier, like the parents.
  • A child has a 25% chance of inheriting functional genes from both parents. Both men and women are at the same level of risk.

Arrhythmia (abnormal heart rhythm),Cardiomyopathy,Heart failure
Glucocorticoids (Prednisone),Blood transfusions,Plasmapheresis (PLAZ-meh-feh-RE-sis),Surgery,Blood and marrow stem cell transplants
Yellowing of the skin (Jaundice),Tiredness,Enlarged spleen,Hepatomegaly

Is there a cure/medications for nonspherocytic hemolytic anemia congenit...?

The treatment for congenital hemolytic anemia will depend on the type, cause, and severity of the condition. Your doctor also will consider your age, overall health, and medical history.

  • The goals of treating hemolytic anemia include reducing or stopping the destruction of red blood cells, increasing the red blood cell count to an acceptable level, and treating the underlying cause of the condition.
  • People with mild hemolytic anemia may not need treatment. However, people suffering from severe hemolytic anemia need ongoing treatment as it can be fatal if not properly treated.
  • Blood transfusions: For severe or life-threatening hemolytic anemia, blood transfusions are used as treatment. This is a common procedure where the blood is given through an intravenous (IV). Transfusions require careful matching of donated blood with the recipient's blood.
  • Medications: Medicines like Corticosteroids or immunosuppressants like rituximab and cyclosporine can improve some types of hemolytic anemia, especially autoimmune hemolytic anemia (AIHA). Corticosteroids can stop your immune system from making antibodies (proteins) against red blood cells.
  • If you suffer from severe sickle cell anemia, your doctor may recommend a medicine called hydroxyurea that prompts your body to make fetal hemoglobin to prevent red blood cells from sickling and improves anemia.
  • Plasmapheresis: This procedure removes antibodies from the blood. Blood is taken from your body using a needle inserted into a vein. The plasma, which contains the antibodies, is separated from the rest of the blood. The plasma from a donor and the rest of the blood is put back into your body.
  • Surgery: Some people may need surgery to remove damaged, enlarged or old spleens to stop or reduce high rates of red blood cell destruction.
  • Bone marrow transplant: In some cases of hemolytic anemia, the bone marrow doesn't make enough healthy red blood cells. Hence, blood and marrow stem cell transplants may be used to treat these types of hemolytic anemia.

Arrhythmia (abnormal heart rhythm),Cardiomyopathy,Heart failure
Glucocorticoids (Prednisone),Blood transfusions,Plasmapheresis (PLAZ-meh-feh-RE-sis),Surgery,Blood and marrow stem cell transplants Symptoms
Yellowing of the skin (Jaundice),Tiredness,Enlarged spleen,Hepatomegaly

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