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<p>Hereditary hemorrhagic telangiectasia (HHT) is an important but under diagnosed bleeding disorder. Indian literature on HHT is limited to individual case reports and almost no information on the genetics of HHT. Here, we report a series of five unrelated patients who presented with various bleeding manifestations and anaemia. Two patients had history of bleeding from fingertips. Telangiectasias and visceral A-V malformations were the common phenotypic features. Splenic and bronchial artery aneurysms were present in 2 patients. Clinical exome sequencing identified known pathogenic variants in Activin A receptor-like type 1 in 2 patients and novel variants in Endoglin gene in 2 patients. 1 patient did not undergo genetic testing. Treatment included blood transfusion and thalidomide in 3 patients. HHT has to be considered during the evaluation of iron deficiency anemia in adult patients.</p>

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Hereditary Hemorrhagic Telangiectasia—Uncommon Findings and Novel Genetic Variants: A Single Centre Case Series from Southern India

  • 期刊论文

  • 发表日期：

    2025年6月5日

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  • S. Deepak Amalnath,
  • P. Mughilan,
  • Govindraj Shrinivas Maniyar,
  • Pugazhvel Rajendran

摘要

Hereditary hemorrhagic telangiectasia (HHT) is an important but under diagnosed bleeding disorder. Indian literature on HHT is limited to individual case reports and almost no information on the genetics of HHT. Here, we report a series of five unrelated patients who presented with various bleeding manifestations and anaemia. Two patients had history of bleeding from fingertips. Telangiectasias and visceral A-V malformations were the common phenotypic features. Splenic and bronchial artery aneurysms were present in 2 patients. Clinical exome sequencing identified known pathogenic variants in Activin A receptor-like type 1 in 2 patients and novel variants in Endoglin gene in 2 patients. 1 patient did not undergo genetic testing. Treatment included blood transfusion and thalidomide in 3 patients. HHT has to be considered during the evaluation of iron deficiency anemia in adult patients.