autosomal dominant beta thalassemia

Autosomal dominant beta thalassemia is a rare form of beta thalassemia, a blood disorder that affects the production of hemoglobin in red blood cells.

• Inheritance pattern: Autosomal dominant beta thalassemia is caused by a mutated HBB gene that is inherited dominantly [8]. This means that only one copy of the altered gene in each cell is needed to express the condition.
• Symptoms: Individuals with autosomal dominant beta thalassemia may present with symptoms of either beta-thalassemia major or beta-thalassemia intermedia, which include moderate to severe anemia [3].
• Genetic basis: The abnormal HBB gene variant is responsible for the production of abnormal hemoglobin, leading to severe hemolytic anemia as a consequence of its hyper instability [6].
• Clinical presentation: Autosomal dominant beta thalassemia can present at any age, but symptoms are often noticed in childhood or adolescence. In rare instances, it may be diagnosed later in life due to mild symptoms [4].

It's worth noting that autosomal dominant beta thalassemia is a rare form of the condition, and most cases follow an autosomal recessive inheritance pattern.

References:

[3] - Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia. [6] - The abnormal Hb is associated with severe hemolytic anemia as a consequence of its hyper instability. [8] - Autosomal dominant beta thalassemia is caused by a mutated HBB gene that is inherited dominantly.

Autosomal dominant beta thalassemia, also known as Beta-thalassemia intermedia, presents with a range of symptoms that can vary in severity.

Common signs and symptoms:

• Mild to moderate anemia [7]
• Paleness or jaundice due to anemia [3]
• Weakness and fatigue [2, 5]
• Shortness of breath [2]
• Dizziness or headaches [2, 5]
• Poor growth and development in children [6]

Other complications:

• Organ damage if left untreated [6]
• Bleeding problems due to anemia [6]
• Skeletal abnormalities during infancy [8]
• Splenomegaly (enlarged spleen) [4, 9]

It's essential to note that the severity and presentation of autosomal dominant beta thalassemia can vary significantly among individuals. Some people may experience mild symptoms, while others may have more severe complications.

References: [2] May 23, 2023 — [3] People with Beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. [4] Patients present with moderate to severe anemia, jaundice and splenomegaly. Etiology. Rare mutations in the beta-globin HBB gene result in synthesis of ... [5] During the first 1 to 2 years of life, the child with thalassemia can be pale, fussy, have a poor appetite, and many infections. Without treatment, the spleen, ... [6] May 30, 2022 — In children, beta-thalassemia may affect growth and development. Without treatment, it may cause organ damage, severe anemia, bleeding problems, ... [7] May 1, 2023 — The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia ... [8] by HL MUNCIE JR · 2009 · Cited by 675 — Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular ... [9] 2) Thalassemia major (Cooley anemia; BT-major) is the homozygous form and associates splenomegaly and microcytic and hypochromic anemia resulting from ...

Autosomal dominant beta thalassemia is a rare form of the disorder, and its diagnosis can be challenging. However, several diagnostic tests can help identify this condition.

• Mutation scanning: This test involves analyzing the entire coding region of the HBB gene to detect any mutations that may be causing the autosomal dominant pattern of inheritance [2].
• Linkage analysis: This test is used to determine if a specific mutation is linked to the beta-thalassemia trait, which can help confirm the diagnosis of autosomal dominant beta thalassemia [2].
• Detection of homozygosity: In some cases, only one mutation may be found that is indicative of thalassemia trait, and this test can help detect if an individual is homozygous for a specific mutation [3].

It's worth noting that the diagnosis of autosomal dominant beta thalassemia often requires a combination of these tests, as well as a thorough medical history and physical examination. A healthcare professional will typically perform a complete blood count (CBC) and hemoglobin electrophoresis to rule out other conditions that may be causing similar symptoms [6][7].

In addition, parents and siblings should also be screened for the condition, as they may carry the mutation and pass it on to their offspring [3].

Treatment Options for Autosomal Dominant Beta Thalassemia

Autosomal dominant beta thalassemia, also known as beta thalassemia dominantly inherited, is a genetic disorder that affects the production of hemoglobin in red blood cells. While there are no specific treatments that can cure the condition, various medications and therapies can help manage its symptoms.

Medications

Several medications have been approved for the treatment of autosomal dominant beta thalassemia:

• VIT-2763: This is an oral ferroportin inhibitor that has shown therapeutic effects in patients with beta thalassemia [4].
• Luspatercept, sotatercept, and mitapivat are other medications being investigated for their potential to treat beta thalassemia, although more research is needed to confirm their efficacy [1].

Other Therapies

In addition to medications, the following therapies may be used to manage symptoms of autosomal dominant beta thalassemia:

• Iron chelation therapy: This involves using medications like deferoxamine (Desferal) to remove excess iron from the body [8].
• Regular blood transfusions: These can help increase red blood cell count and reduce anemia symptoms [3].

Emerging Treatments

Several emerging treatments are being explored for their potential to treat autosomal dominant beta thalassemia, including:

• Gene therapies: Researchers are investigating gene therapies like Luxturna, Zolgensma, Strimvelis, and Lyfgenia, which have shown promise in treating other genetic disorders [9].

It's essential to note that the effectiveness of these treatments may vary depending on individual circumstances. Patients with autosomal dominant beta thalassemia should consult with their healthcare provider to determine the best course of treatment.

References:

[1] S Biswas (2024) - clinical trials for various drugs, including luspatercept, sotatercept, and mitapivat. [3] May 23, 2023 - regular blood transfusions are a common treatment option. [4] I Motta (2020) - VIT-2763 ferroportin inhibitor shows therapeutic effects in beta thalassemia patients. [8] HL MUNCIE JR (2009) - deferoxamine (Desferal) is the treatment of choice for iron overload. [9] V Baylot (2024) - four treatments are approved, including Luxturna and Zolgensma.

Autosomal dominant beta thalassemia is a rare form of the disorder, and its differential diagnosis can be challenging due to its similarity with other conditions. However, based on the search results, here are some possible conditions that may need to be ruled out in the differential diagnosis:

• Genetic sideroblastic anemias: These are a group of disorders characterized by abnormal iron accumulation within the mitochondria of red blood cells. They can present with similar symptoms to autosomal dominant beta thalassemia, such as anemia and elevated levels of HbF.
• Congenital dyserythropoietic anemias: This is a rare group of disorders characterized by abnormal development of red blood cells. They can also present with anemia and may have similar laboratory findings to autosomal dominant beta thalassemia.
• Other conditions with high levels of HbF: Such as juvenile myelomonocytic leukemia and aplastic anemia, which can also present with elevated levels of fetal hemoglobin (HbF) and may be confused with autosomal dominant beta thalassemia.

It's essential to note that the differential diagnosis of autosomal dominant beta thalassemia is usually straightforward, but it's crucial to consider these conditions when making a diagnosis. A thorough evaluation of the patient's clinical presentation, laboratory findings, and family history can help differentiate autosomal dominant beta thalassemia from other similar disorders.

References:

• [2] Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia).
• [10] Differential Diagnosis. Beta-thalassemia (β-thalassemia) associated with additional hematologic and/or nonhematologic features.
• [12] Clinical diagnosis. Carriers of thalassaemia are usually clinically ...