HomeHealth articleshereditary pyropoikilocytosisWhat Is Hereditary Pyropoikilocytosis?

Hereditary Pyropoikilocytosis - Causes, Symptoms, Diagnosis, and Treatment

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Hereditary pyropoikilocytosis is a red blood cell membrane disorder that can cause anemia. This article explains this condition in detail.

Medically reviewed by

Dr. Mubashir Razzaq Khan

Published At November 28, 2022
Reviewed AtJanuary 11, 2024

Introduction

Hereditary pyropoikilocytosis (HPP) is a disorder of the red blood cell membrane, which is autosomal recessive. It is clinically related and considered a subtype of hereditary elliptocytosis (HE). HPP leads to a functional alteration in spectrin. Spectrin is the main cytoskeletal protein of the RBC cell membrane. This condition presents itself as severe hemolytic anemia with thermal instability of the red blood cells. Patients with this condition require blood transfusion rich in packed red blood cells. Patients with chronic hemolytic disease may require Folate supplementation.

Hereditary pyropoikilocytosis is one of the rare causes of severe hemolytic anemia. It is commonly observed in African people, but studies have shown its incidence in European and Arab people also. No gender predominance has been reported. It is usually diagnosed during infancy or early childhood when the affected individual experiences severe hemolytic anemia. They can present with classic HE later in life.

How Is It Caused?

As mentioned earlier, Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis. This red blood cell membrane disorder is caused by mutations in the genes that encode α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). Another cause for the major category of this condition (HE) is monoallelic, that is, heterozygous mutations and autosomal dominant inheritance. However, HPP has an autosomal recessive type of inheritance commonly caused by biallelic, homozygous, or compound heterozygous type mutations.

What Are The Signs And Symptoms?

This condition is manifested most commonly during infancy when the child presents with transfusion-dependent hemolytic anemia. When the family history is assessed, nonhemolytic hereditary elliptocytosis in a parent or sibling can be recorded. There are chances that the other parent can have an earlier undiagnosed spectrin deficiency.

When a physical examination is done, the physician may notice signs of anemia. Studies have reported prolonged neonatal jaundice. Various other signs can be observed, such as extramedullary hematopoiesis, like frontal bossing (forehead prominence) and splenomegaly (enlargement of the spleen). Children affected with this condition may also show growth retardation. Gallbladder disease can complicate chronic hemolytic disease in these patients.

In newborns and infants with neonatal poikilocytosis, severe hemolytic anemia is typically cured after the first year of life. If there is severe hemolytic anemia and jaundice, transfusions and phototherapy can be provided. This resolution of symptoms after a year helps the physician differentiate between neonatal poikilocytosis and hereditary pyropoikilocytosis. Other conditions that mimic HPP are hereditary elliptocytosis, hereditary spherocytosis, neonatal poikilocytosis, and Southeast Asian ovalocytosis.

How Can It Be Diagnosed?

The physician will ask questions regarding the signs and symptoms, family history, and medical history. Then, a physical examination is done to examine for signs. A peripheral blood smear can be done to diagnose HPP. This smear helps in identifying abnormal red blood cell structures. The blood smear also shows elliptocytes, microcytic red cells (small-sized RBCs), polychromasia, differently shaped cells with fragmentation, poikilocytes, pyknocytes, and microspherocytes.

The International Council for Standardization in Hematology (ICSH) has mentioned certain guidelines to help diagnose non-immune hereditary red cell membrane disorders, including hereditary pyropoikilocytosis (HPP). The guidelines mention that regular reviewing of the patient's family history and medical history, blood count assessment, reticulocyte count, and red cell structure can help in the diagnosis.

Ektacytometry

Osmotic gradient ektacytometry has been used as the reference technique for diagnosing RBC membrane disorders. Various other tests include the evaluation of the ratio of spectrin to band 3. This helps identify the spectrin level, which helps differentiate homozygous hemolytic elliptocytosis.

The imaging studies that can be used are ultrasound of the biliary tract. It may reveal gallstones, mainly in those patients who have been diagnosed with symptomatic cholelithiasis. A nuclear scan can be used to check the presence of any disease in the gallbladder disease if ultrasonography is non-diagnostic.

How Can It Be Treated?

Transfusion of blood rich in packed red blood cells is necessary for patients with severe hemolytic anemia with hereditary pyropoikilocytosis. Patients with chronic hemolytic disease may require Folate supplementation also. Also, supportive measures like oxygen, intravenous fluids, and blood count monitoring can be provided in patients with acute symptoms. Patients can be given medical care or surgical care as the following depending on individual needs:

Medical Care

No exact medications are used in treating patients with hereditary pyropoikilocytosis. The medications are provided for symptomatic relief or to manage complications based on individual needs. Folic acid is commonly utilized to prevent folic acid deficiency. Folic acid deficiency can occur as a result of increased erythropoiesis. Patients who have developed extreme iron overload from transfusion of red blood cells may require iron chelation therapy.

Surgical Care

The primary site for the sequestration of red cells is the spleen. It also plays a role in developing severe anemia in patients with HPP. Patients with severe hemolytic anemia refractory to or complicated due to chronic blood transfusion may need splenectomy. Studies have shown that splenectomy helps improve the severity of anemia and gallstones.

How Is The Prognosis?

The prognosis is based on the number of transfusions required to maintain an adequate hemoglobin count in a growing child. Also, the ability to prevent any serious complications after splenectomy Most of the complications are associated with severe anemia with multiple resultant transfusions and the occurrence of iron toxicity in most of the main organs in the body.

Complications that are mostly associated with chronic hemolysis are the following:

Patients who have undergone splenectomy are more prone to develop infections caused due to encapsulated organisms. However, these infections rarely occur in those patients who have been immunized against Haemophilus influenzae, pneumococcus, and meningococcus.

Conclusion:

Hereditary pyropoikilocytosis is a disorder of red blood cells that causes anemia-related complications. You can consult a specialist online to learn more about this condition with the help of online medical platforms.

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Dr. Mubashir Razzaq Khan
Dr. Mubashir Razzaq Khan

Hematology

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