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Hereditary Elliptocytosis

2024/9/30
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Medgeeks Clinical Review Podcast
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Dr. Niket Sonpal
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Dr. Niket Sonpal: 遗传性椭圆形红细胞增多症是一种遗传性的红细胞疾病，其特征是红细胞呈椭圆形并伴有溶血问题。与遗传性球形红细胞增多症不同，椭圆形红细胞增多症主要影响红细胞蛋白质的功能，导致细胞在通过狭窄的毛细血管后难以恢复其正常的双凹形状。这些变形的红细胞容易被脾脏截留和破坏，从而导致溶血。虽然遗传性球形红细胞增多症影响细胞的结构和形状，但遗传性椭圆形红细胞增多症主要影响细胞在受挤压后的回弹能力。诊断主要依赖于血涂片检查，观察椭圆形红细胞的比例，并结合溶血指标进行评估。基因检测通常不是必需的，除非存在诊断不确定性或需要进行遗传咨询。

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Hereditary elliptocytosis is an inherited red blood cell disorder where red blood cells are elongated and elliptical, leading to hemolysis. It's similar to spherocytosis but differs in how genetic alterations affect red blood cell function and shape. The disorder's prevalence varies globally, with higher rates in certain populations.
  • Red blood cells are elongated and elliptical.
  • Genetic alterations affect red blood cell function.
  • Higher prevalence in people of African, Southeast Asian, and Mediterranean descent.

Shownotes Transcript

Hereditary elliptocytosis, a blood disorder marked by abnormally shaped red blood cells, can significantly impact quality of life. In this episode, we delve into the world of elliptocytosis, exploring its causes, symptoms, and the challenges faced by those living with this condition. Common symptoms include fatigue, anemia, jaundice, and abdominal or splenic pain. Diagnosis typically involves a blood test examining red blood cell shape and size. Treatment may include medications, blood transfusions, and potentially splenectomy.

Join Dr. Niket Sonpal as we discuss this rare, genetic blood conditon.