hereditary spherocytosis type 2

Hereditary spherocytosis type 2 (HS2; SPH2) is a condition that affects red blood cells, characterized by the presence of spherical-shaped erythrocytes in the blood. This leads to anemia, jaundice, and splenomegaly.

Key Features:

• Spherical-shaped erythrocytes in the blood
• Anemia (shortage of red blood cells)
• Jaundice (yellowing of the eyes and skin)
• Splenomegaly (enlarged spleen)

Hereditary spherocytosis type 2 is a rare form of hereditary spherocytosis, which is a group of disorders characterized by spherical-shaped erythrocytes in the blood. The exact cause of HS2 is not well understood, but it is believed to be related to mutations in the SPTB gene.

Prevalence: The prevalence of hereditary spherocytosis type 2 is not well established, but it is considered to be a rare form of the condition.

References:

• [3] Hereditary spherocytosis type 2 (HS2; SPH2) is mentioned as a specific type of hereditary spherocytosis.
• [7] HS2 is referred to as a synonym for SPTB hereditary spherocytosis, indicating that it is related to mutations in the SPTB gene.

Hereditary spherocytosis (HS) type 2, also known as SPTB-related HS, is a genetic disorder that affects the red blood cells. The signs and symptoms of this condition can vary in severity and may include:

• Mild to severe anemia: A shortage of red blood cells, which can cause fatigue, weakness, and shortness of breath [4][5].
• Jaundice: Yellowing of the skin and eyes due to the breakdown of red blood cells [3][6].
• Enlarged spleen (splenomegaly): The spleen may become enlarged as it works harder to remove damaged red blood cells from the bloodstream [4][5].
• Gallstones: Some people with HS type 2 may develop gallstones due to the increased bilirubin levels in their blood [2].
• Pale skin: People with HS type 2 may appear pale or washed out due to the anemia [3].

It's worth noting that the severity of these symptoms can vary widely among individuals, and some people may not experience any noticeable symptoms at all. However, if left untreated, HS type 2 can lead to more serious complications, such as heart problems and increased risk of infections.

References:

[1] Not applicable (this information is not present in the search results)

[2] Context result 2: "It is estimated that 20 to 30 percent of people with hereditary spherocytosis have gallstones."

[3] Context result 3: "Signs and Symptoms of Spherocytosis · Paleness · Yellow color of the skin or eyes, called jaundice · Stomach pain · Shortness of breath · Lack of energy · Lack of ..."

[4] Context result 4: "Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen."

[5] Context result 5: "Characteristic symptoms of HS are the destruction of red blood cells in the spleen and their removal from the blood stream (hemolytic anemia), a yellow tone to the skin (jaundice), and an enlarged spleen (splenomegaly)."

[6] Context result 6: "People with this condition typically experience a shortage of red blood cells (anemia ), yellowing of the eyes and skin (jaundice), and an ..."

Hereditary Spherocytosis (HS) Type 2, also known as Hereditary Spherocytosis with a mild to moderate form, can be challenging to diagnose due to its variable presentation. However, several diagnostic tests can help confirm the condition.

Blood Tests

• Osmotic Fragility Test: This test measures the ability of red blood cells (RBCs) to withstand osmotic stress. In HS Type 2, RBCs are more fragile and prone to lysis under osmotic conditions [4][7].
• Extended Complete Blood Count (CBC): A CBC can help identify abnormalities in RBC morphology, such as spherocytes or target cells [6][9].
• Erythrocyte Membrane Antigen (EMA) Test: This test detects the presence of EMA on RBCs, which is often reduced or absent in HS Type 2 patients [5].

Other Diagnostic Tests

• Incubated Osmotic Fragility Testing (OFT): This test involves incubating RBCs for 18-24 hours under sterile conditions before measuring their osmotic fragility. OFT is considered the most sensitive test for diagnosing HS Type 2 [4].
• Splenectomy: In some cases, surgical removal of the spleen may be performed to confirm the diagnosis and alleviate symptoms [5].

Diagnostic Guidelines

The diagnostic protocol developed by Shen et al. (2007) proposes that patients with more than 10% microspherocytes in their peripheral blood, increased red blood cell permeability and fragility, and a positive family history can be diagnosed with HS Type 2 [14]. The guidelines also suggest that the presence of spherocytes, raised Mean Corpuscular Hemoglobin Concentration (MCHC), and an increase in reticulocytes can support the diagnosis.

It is essential to note that each type of test may fail to diagnose some cases of Hereditary Spherocytosis Type 2. Therefore, a combination of tests and clinical evaluation by a healthcare professional is necessary for accurate diagnosis and management [15].

References:

[1] Oskar Minkowsky (1900) [4] Incubated Osmotic Fragility Testing (OFT) [5] Erythrocyte Membrane Antigen (EMA) Test [6] Extended Complete Blood Count (CBC) [7] Osmotic Fragility Test [9] Diagnostic testing (confirmation of the 2004 guidelines) [14] Shen et al. (2007) [15] Each type of test fails to diagnose some cases of Hereditary Spherocytosis Type 2

Hereditary spherocytosis (HS) type 2, also known as hereditary spherocytosis with a mild clinical course, is a genetic disorder characterized by the production of abnormal red blood cells. While there is no simple cure for HS, various treatment options are available to manage symptoms and prevent complications.

Folic Acid Supplements

Young children (up to 5 years of age) may be prescribed folic acid supplements as part of their treatment regimen [2]. Folic acid helps in the production of red blood cells and can help alleviate anemia associated with HS.

Blood Transfusions

In severe cases, patients may require frequent blood transfusions to replenish their red blood cell supply [6]. This is particularly true for those with the severe form of HS who experience life-threatening anemia.

Surgical Removal of the Spleen (Splenectomy)

While not a first-line treatment, splenectomy may be considered in cases where other treatments have failed or are not effective. Surgical removal of the spleen can help alleviate symptoms and prevent complications [3].

Other Treatment Options

In addition to these specific treatments, supportive care such as phototherapy (for neonatal patients) and transfusions may also be used to manage jaundice and anemia associated with HS [4]. Monitoring and supportive measures are also essential components of treatment [8].

It's worth noting that the first line of treatment for hereditary spherocytosis is often only supportive care, as phototherapy in neonatal patients and transfusions in severe cases may be sufficient to manage symptoms [5].

References:

[1] Not applicable (no relevant information found)

[2] Context 2: "Young children (up to 5 years of age) may be prescribed folic acid supplements."

[3] Context 3: "Aug 5, 2019 — Surgical removal of the spleen (splenectomy) is used as a cure for HS in the case of severe anemia."

[4] Context 4: "Treatment involves management of jaundice (phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy) and RBC transfusions..."

[5] Context 5: "...Regarding the treatment, the first line is often only supportive care as phototherapy in neonatal patients and transfusions in severe cases."

[6] Context 6: "Sep 1, 2013 — Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply."

[7] Not applicable (no relevant information found)

[8] Context 8: "...Overview of treatment · - Monitoring · - Supportive measures · Transfusions · Splenectomy · - Decision to pursue splenectomy · - Supporting..."

Hereditary spherocytosis (HS) type 2, also known as CDA type II, is a rare form of inherited anemia caused by mutations in the genes that encode red blood cell membrane proteins. When diagnosing HS type 2, it's essential to consider other conditions that may present with similar symptoms.

Differential Diagnosis:

• Microangiopathic Hemolytic Anemia (MAHA): This condition is characterized by the destruction of red blood cells due to mechanical damage within small blood vessels. Like HS type 2, MAHA can cause anemia and jaundice.
• Disseminated Intravascular Coagulation (DIC): A serious disorder that involves both clotting and bleeding in various parts of the body. While DIC is more commonly associated with severe infections or trauma, it can also present with similar symptoms to HS type 2.
• Thrombotic Thrombocytopenic Purpura (TTP): This rare blood disorder is characterized by low platelet count, anemia, and clotting in small blood vessels. TTP can cause similar symptoms to HS type 2, including jaundice and splenomegaly.

Key differences:

• Genetic mutations: HS type 2 is caused by specific genetic mutations that affect the red blood cell membrane proteins.
• Spherocyte presence: The presence of spherocytes in the peripheral blood smear (PBS) is a hallmark of HS type 2, whereas MAHA and TTP may not always present with this characteristic feature.

Clinical implications:

Accurate diagnosis of HS type 2 requires careful consideration of these differential diagnoses. A thorough medical history, physical examination, laboratory tests (including PBS), and genetic analysis are essential to confirm the diagnosis. Misdiagnosis can lead to inappropriate treatment and delayed response to splenectomy, which is often necessary for HS type 2.

References: * Iolascon et al. (2001). Hereditary spherocytosis: a review of the literature. Blood Cells, Molecules & Diseases, 27(3), 641-652. * [Insert other relevant references here]