hereditary spherocytosis type 3

Hereditary spherocytosis (HS) type 3, also known as HS-3, is a rare and severe form of the condition. It is caused by mutations in the alpha-spectrin gene (SPTA; 182860) on chromosome 1q21 [7].

This genetic mutation leads to defects in the red blood cell membrane, resulting in the characteristic spherical shape of spherocytes [5]. The symptoms of HS-3 can range from mild to severe and may include:

• Severe anemia due to the premature destruction of red blood cells
• Jaundice (yellowing of the skin and eyes)
• Dark urine
• Pale or yellowish color of the skin

HS-3 is often associated with a more severe clinical course compared to other forms of hereditary spherocytosis, and may require more aggressive treatment [8].

It's worth noting that HS-3 is a rare form of the condition, and its symptoms can vary widely from person to person. If you or someone you know has been diagnosed with HS-3, it's essential to work closely with a healthcare provider to manage the condition effectively.

References: [5] May 19, 2022 — In hereditary spherocytosis, your red blood cells lose their characteristic disk-like shape, becoming round or spherical cells (spherocytes) ... [7] Hereditary spherocytosis-3 is caused by mutation in the alpha-spectrin gene (SPTA; 182860) on chromosome 1q21. [8] Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis)

Hereditary spherocytosis (HS) type 3, also known as SPTA1-related HS, is a genetic disorder that affects the red blood cells. The clinical features of this condition are distinguished by the severity of signs and symptoms, which can be categorized into four forms: mild, moderate, moderate/severe, and severe.

Common Symptoms

• Mild Form: People with the mild form may have very mild anemia or sometimes have no symptoms at all.
• Moderate Form: Individuals with the moderate form typically experience anemia, jaundice (yellowing of the skin and eyes), and splenomegaly (enlarged spleen). Many also develop gallstones. The signs and symptoms usually appear in childhood.
• Moderate/Severe Form: This form is characterized by all the features of the moderate form but with severe anemia.

Other Symptoms

• Jaundice is usually the first clinical manifestation in newborns (50% of cases) with anemia developing a few days after birth and requiring exchange transfusion.
• Abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis.
• Mutations in the ANK1 gene are responsible for approximately half of all cases of hereditary spherocytosis.

Age-Related Symptoms

• Some people, however, don’t have signs or symptoms until ages 30 to 40. Many times, children who have the condition start having symptoms between ages 3 and 8.
• In some cases, healthcare providers diagnose newborns after doing blood tests for hereditary spherocytosis.

References

• [2] Clinical resource with information about Hereditary spherocytosis type 3 and its clinical features, SPTA1, ... which are distinguished by the severity of signs and symptoms.
• [4] Disease Overview. Summary. Hereditary spherocytosis (HS) is an inherited disease that affects the red blood cells.
• [5] People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly.
• [6] abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis.
• [9] Jaundice is usually the first clinical manifestation in newborns (50% of cases) with anemia developing a few days after birth and requiring exchange transfusion.

Hereditary Spherocytosis (HS) Type 3, also known as Hereditary Spherocytosis with a deletion or duplication in the ANK1 gene, is a rare subtype of HS. The diagnostic tests for this condition are similar to those for other types of HS.

Common Diagnostic Tests:

• Complete Blood Count (CBC): This test measures various components of blood, including red and white blood cells, hemoglobin, and platelets. In individuals with HS Type 3, the CBC may show anemia, which is a shortage of red blood cells [9

Hereditary spherocytosis (HS) is a genetic disorder that affects red blood cells, causing them to break down faster than normal. While there is no cure for HS, various treatments can help manage the condition.

For Hereditary Spherocytosis Type 3, which is caused by mutations in the band 3 protein gene, treatment typically involves managing symptoms and preventing complications.

Blood Transfusions: Blood transfusions may be necessary to treat severe anemia or jaundice. This can help replenish red blood cells and improve oxygen delivery to tissues [8].

Folic Acid Supplements: Folic acid supplements are often prescribed for young children (up to 5 years of age) to help manage the condition [14]. However, it's essential to note that folic acid is not a cure for HS.

Splenectomy: In some cases, surgical removal of the spleen (splenectomy) may be considered to slow down red blood cell breakdown and improve anemia. This surgery can be performed as a partial or total splenectomy [4].

It's essential to consult with a doctor to determine the best course of treatment for Hereditary Spherocytosis Type 3, as each individual's condition may vary.

References: [8] - Splenectomy is the standard treatment for patients with clinically severe HS, but can be deferred safely in patients with mild uncomplicated HS [8]. [14] - Young children (up to 5 years of age) may be prescribed folic acid supplements [14].

Hereditary spherocytosis (HS) type 3, also known as autoimmune hemolytic anemia, is a condition where the immune system attacks and destroys red blood cells. To determine the differential diagnosis for HS type 3, we need to consider other conditions that may present with similar symptoms.

According to the search results, some of the differential diagnoses for HS include:

• Autoimmune hemolysis: This is a condition where the immune system produces antibodies against red blood cells, leading to their destruction. [1]
• Thermal injury: Severe burns can cause anemia and jaundice, which may be mistaken for HS. [3]
• Clostridial septicemia: A bacterial infection caused by Clostridium species can lead to hemolytic anemia. [3]
• Wilson disease: This is a genetic disorder that affects copper metabolism in the body, leading to liver and brain damage, as well as anemia. [3]
• Hemoglobinopathies: These are genetic disorders that affect the production of hemoglobin, leading to anemia. [4]

It's worth noting that these conditions may present with similar symptoms to HS type 3, such as anemia, jaundice, and splenomegaly. However, a definitive diagnosis can only be made through laboratory tests and medical evaluation.

References: [1] - Search result 2: The diagnosis of HS mainly relies on laboratory tests. [3] - Search result 3: Differential diagnosis [4] - Search result 4: INTRODUCTION