HEREDITARY SPHEROCYTOSIS

TYPES

There are several types of hereditary spherocytosis (HS), which can vary in terms of their underlying genetic mutations and clinical presentation. The most common types include:

1. Autosomal Dominant Hereditary Spherocytosis: This is the most common form of HS and is inherited in an autosomal dominant pattern. It is caused by mutations in genes encoding proteins involved in the structure and function of red blood cells, such as ankyrin, spectrin, or band 3. Symptoms can range from mild to severe, and affected individuals may experience chronic anemia, jaundice, gallstones, and an enlarged spleen.
2. Autosomal Recessive Hereditary Spherocytosis: This form of HS is less common and is inherited in an autosomal recessive pattern. It is caused by mutations in genes such as SPTB, SLC4A1, or EPB42. Autosomal recessive HS tends to be more severe than the dominant form and can present in infancy with severe anemia, hepatosplenomegaly (enlarged liver and spleen), and a higher risk of complications like aplastic crisis or fetal hydrops.
3. Sporadic or De Novo Mutations: In some cases, individuals may develop HS due to spontaneous gene mutations that are not inherited from either parent. These sporadic or de novo mutations can result in the development of HS without a family history of the condition.
4. Overlapping Phenotypes: It is important to note that there can be variations and overlapping phenotypes between different types of HS. Genetic testing and a thorough evaluation by a healthcare professional experienced in the management of HS are crucial to accurately diagnose and classify the specific type of HS in each individual case.

It is worth mentioning that these are general categories, and there can be further genetic and clinical variations within each type. Consultation with a healthcare professional or genetic specialist is essential for a comprehensive evaluation, diagnosis, and management plan tailored to the specific type of HS in each individual case.

SYMPTOMS

The symptoms of hereditary spherocytosis (HS) can vary from mild to severe and may manifest differently in each individual. Here are some common symptoms associated with HS:

• Fatigue: People with HS may experience persistent tiredness and a lack of energy due to the chronic anemia caused by the condition.
• Jaundice: HS can lead to an increased breakdown of red blood cells, resulting in a buildup of bilirubin in the body. This can cause yellowing of the skin and eyes, known as jaundice.
• Pale skin: Anemia can cause a reduction in the number of red blood cells, leading to a pale or washed-out appearance of the skin.
• Enlarged spleen: The spleen plays a role in filtering and removing damaged red blood cells. In HS, the spleen may become enlarged as it works to clear the abnormal spherical red blood cells.
• Gallstones: The breakdown of red blood cells in HS can release excessive amounts of bilirubin, which can contribute to the formation of gallstones.
• Abdominal pain: In some cases, an enlarged spleen in HS can cause discomfort or pain in the abdomen.

DIAGNOSIS

Hereditary spherocytosis (HS) is normally diagnosed using a combination of physical exam, lab tests, genetic testing, and study of medical history. Here are some typical procedures used in the HS diagnosis:

1. Medical history and physical exam: The doctor will inquire about the patient’s signs and symptoms, family history, and any prior medical disorders. Additionally, they will do a physical examination to look for symptoms such as spleen enlargement, jaundice, or pale skin.

2. Complete blood count (CBC): A CBC is a blood test that tells you how many and what kinds of blood cells you have. Anaemia (low red blood cell count), an increase in reticulocytes (immature red blood cells), and alterations to other blood cell characteristics may be seen in HS.

3. Blood smear: A blood smear is an examination of stained blood under the microscope. It enables the clinician to see the properties and form of red blood cells. The blood smear may exhibit various distinctive alterations including a rise in spherocytes, or red blood cells with a sphere-like form, in HS.

4. Osmotic fragility test: The osmotic fragility test evaluates how well red blood cells can survive variations in osmotic pressure. Spherocytes in HS are more delicate and prone to rupture than typical red blood cells.

5. Antiglobulin test: The direct antiglobulin test (Coombs test) aids in the differentiation of immune-mediated hemolytic anemia from HS. On the surface of red blood cells, it looks for antibodies or complement proteins.

6. Genetic testing: By identifying particular gene mutations linked to the illness, genetic testing may support the diagnosis of HS. This may be especially helpful when there is a family history of HS or when the diagnosis is unclear.

TREATMENT

Hereditary spherocytosis (HS) therapy attempts to control symptoms, avert complications, and enhance general quality of life. Depending on the condition’s severity and each person’s unique demands, the particular treatment strategy could change. Here are some typical methods for treating HS:

1. Supplementing with folic acid: Folic acid aids in the synthesis of red blood cells and may help offset the increased breakdown of these cells in haemophilia A (HS). To make sure there is an appropriate amount, folic acid supplements are often suggested.

2. Blood transfusions: Blood transfusions may be required to restore the red blood cell count and alleviate symptoms in severe instances of HS or during bouts of considerable anaemia.

3. Splenectomy: Surgically removing the spleen (splenectomy) is the most effective therapy for HS. Damaged red blood cells are expelled by the spleen, which in HS may expand and become hyperactive. In many people, splenectomy may lessen the loss of red blood cells and improve anaemia. The choice to have a splenectomy should be carefully addressed on a case-by-case basis since it does have hazards, such as an increased susceptibility to certain infections.

4. Management of problems: Additional therapy may be necessary for HS issues including gallstones or iron overload. A surgical removal of the gallbladder may be necessary in certain circumstances to treat gallstones. Medications that chelate iron may be used to treat high amounts of iron in the body.

5. Consistent monitoring: People with HS should see their doctor for frequent checkups to keep an eye on their iron levels, red blood cell count, and general health. This makes it possible to guarantee that any changes or difficulties are quickly recognised and handled.