autosomal dominant macrothrombocytopenia TUBB1-related

Autosomal dominant macrothrombocytopenia TUBB1-related is a rare genetic disorder characterized by low platelet count (thrombocytopenia) and abnormally large platelets. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disease.

The key features of this condition include:

• Low platelet count (thrombocytopenia)
• Abnormally large platelets
• Normal platelet aggregation

This condition is caused by mutations in the TUBB1 gene, which plays a crucial role in the formation and function of microtubules in platelets. The exact mechanism by which these mutations lead to thrombocytopenia and macrothrombocytes is not fully understood.

It's worth noting that this condition is rare and affects a small number of people worldwide. If you or someone you know has been diagnosed with autosomal dominant macrothrombocytopenia TUBB1-related, it's essential to consult with a healthcare professional for proper diagnosis and management.

References:

• [3] Autosomal dominant macrothrombocytopenia tubb1-related is a thrombocytopenia characterized by macrothrombocytopenia with normal platelet aggregation.
• [5] Definition: A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutations in the TUBB1 gene.
• [7] A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material_basis_in mutation in the TUBB1 gene.

Autosomal dominant macrothrombocytopenia (ADTM) caused by mutations in the TUBB1 gene is a rare genetic disorder characterized by low platelet numbers and abnormally large platelets. The signs and symptoms of ADTM-TUBB1 related can vary, but here are some common ones:

• Low platelet count: Patients with ADTM-TUBB1 have a significantly lower platelet count than normal, which can lead to bleeding complications [5].
• Macrothrombocytopenia: The presence of abnormally large platelets is a hallmark of this condition [5].
• Bleeding tendency: Due to the low platelet count and dysfunction, patients with ADTM-TUBB1 may experience easy bruising, nosebleeds, and other bleeding complications [7].

It's worth noting that the severity and progression of ADTM-TUBB1 can vary significantly among individuals. Some people may have mild symptoms, while others may experience more severe bleeding episodes.

References: [5] - The TUBB1 gene is one of the genes responsible for autosomal dominant macrothrombocytopenia [5]. [7] - Thrombocytopenia is often progressive and bleeding highly variable in ADTM-TUBB1 patients [7].

Diagnostic Tests for Autosomal Dominant Macrothrombocytopenia TUBB1-Related

Autosomal dominant macrothrombocytopenia TUBB1-related is a rare genetic disorder characterized by increased platelet size and decreased number of circulating platelets. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Genetic Tests: Genetic testing for TUBB1 mutations is available through various laboratories, including Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory [2]. This test can detect deletions or duplications in the TUBB1 gene.
• High-Throughput Sequencing (HTS): HTS techniques have expanded the genetic spectrum of inherited thrombocytopenias, bringing the number of genes harboring variants responsible for IT up to around 40 [11]. This test can identify mutations in multiple genes associated with autosomal dominant macrothrombocytopenia.
• Flow Cytometry: Flow cytometry is a preferred method to assess hereditary platelet disorders due to quantitative surface glycoprotein deficiencies [9]. This test can help diagnose and monitor the condition.

Other Diagnostic Tests

• Platelet Laboratory Tests: Platelet laboratory tests, such as platelet count and morphology, can help identify abnormalities in platelet size and number.
• Clinical Evaluation: A comprehensive clinical evaluation by a healthcare professional is essential to confirm the diagnosis and rule out other conditions.

References

[2] Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory [9] Platelet laboratory tests [11] High-Throughput Sequencing (HTS) techniques

Autosomal dominant macrothrombocytopenia, specifically TUBB1-related thrombocytopenia (TUBB1-RT), is a rare genetic disorder characterized by increased platelet size and decreased number of circulating platelets. While there is no specific cure for this condition, various treatment options are available to manage its symptoms.

Medical Treatment

According to the literature [3][7], medical treatment for TUBB1-RT typically involves medications that help increase platelet count and improve blood clotting. These may include:

• THPO-receptor agonists: These drugs have been shown to provide a potential pharmacological option to increase platelet production in patients with TUBB1-RT [5].
• Other medications: Treatment may also involve other medications, such as corticosteroids or immunosuppressive agents, to manage symptoms and prevent complications.

Surgical Considerations

In some cases, surgical intervention may be necessary to correct bleeding complications associated with TUBB1-RT. According to a study [9], DIAPH1-related thrombocytopenia can be temporarily corrected prior to surgery using a specific drug, thereby obviating platelet transfusion.

Current Research and Future Directions

Research is ongoing to better understand the genetic mechanisms underlying TUBB1-RT and to develop more effective treatment strategies. For example, studies are investigating the potential of THPO-receptor agonists in treating this condition [5].

In summary, while there is no specific cure for autosomal dominant macrothrombocytopenia TUBB1-related, various medical treatments and surgical interventions can help manage its symptoms and prevent complications.

References:

[3] by CL Balduini · 2013 · Cited by 125 — [5] Dec 8, 2017 — [7] by V Palma-Barqueros · 2021 · Cited by 24 — [9] by V Palma-Barqueros · 2021 · Cited by 64 —

Autosomal dominant macrothrombocytopenia, also known as TUBB1-related thrombocytopenia, is a rare genetic disorder characterized by an increased platelet size and a decreased number of circulating platelets. The differential diagnosis for this condition involves identifying other possible causes of macrothrombocytopenia.

According to the search results, the most common forms of inherited macrothrombocytopenia include:

• MYH9 disorders: These are caused by mutations in the MYH9 gene and are characterized by giant platelets and thrombocytopenia since birth.
• Heterozygous Bernard-Soulier syndrome: This is a rare genetic disorder that affects the platelet glycoproteins and leads to macrothrombocytopenia.

Other conditions that may be considered in the differential diagnosis of autosomal dominant macrothrombocytopenia include:

• Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1): This is a rare genetic disorder characterized by low platelet numbers and abnormally large platelets with irregular shapes.
• Stormorken syndrome: This is a rare genetic disorder caused by mutations in the STIM1 gene and is characterized by thrombocytopenia, bleeding tendency, and other systemic manifestations.

It's worth noting that the diagnosis of autosomal dominant macrothrombocytopenia can be challenging and often requires a combination of clinical evaluation, laboratory tests, and genetic analysis to confirm the diagnosis.

References:

• Balduini CL, Savino M, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of TUBB1-related thrombocytopenia.
• Guillet B, Bayart S, Pillois X, Nurden P, Caen JP, Nurden AT J Thromb Haemost 2019 Dec;17(12):2211-2215. Epub 2019 Sep 29 doi: 10.1111/jth.14622.
• MedGen UID: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related.