How is Spherocytosis inherited?
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Felix Turner
Works at SmartGrid Technology, Lives in Munich, Germany.
As a subject matter expert in genetics, I can provide you with an accurate explanation of how spherocytosis is inherited.
Hereditary spherocytosis is an autosomal dominant disorder, which means that it is typically inherited from just one affected parent. In this type of inheritance, each child of an affected individual has a 50% chance of inheriting the condition. The disorder is caused by mutations in genes that are responsible for the structural integrity and stability of red blood cells (RBCs). The most commonly affected genes are SPECTRIN, ANKYRIN, BAND 3, and P55.
When these genes are mutated, the red blood cells become more fragile and are prone to breaking apart prematurely in the bloodstream, leading to anemia. The characteristic spherocytes, which are RBCs that have lost their biconcave shape and become spherical, are often seen in a blood smear under a microscope.
Here's the translation of the above explanation into Chinese:
遗传性球形细胞增多症是一种常染色体显性遗传病,这意味着它通常是从一位受影响的父母那里遗传而来。在这种遗传方式中,受影响个体的每个孩子都有50%的几率继承这种状况。该疾病是由导致红细胞(RBCs)结构完整性和稳定性的基因突变引起的。最常受影响的基因是谱蛋白、踝蛋白、带3蛋白和P55。
当这些基因发生突变时,红细胞变得更脆弱,并且容易在血流中过早破裂,导致贫血。特征性的球形细胞,即失去了双凹盘状形状并变成球形的红细胞,在显微镜下观察血涂片时经常可以看到。
Hereditary spherocytosis is an autosomal dominant disorder, which means that it is typically inherited from just one affected parent. In this type of inheritance, each child of an affected individual has a 50% chance of inheriting the condition. The disorder is caused by mutations in genes that are responsible for the structural integrity and stability of red blood cells (RBCs). The most commonly affected genes are SPECTRIN, ANKYRIN, BAND 3, and P55.
When these genes are mutated, the red blood cells become more fragile and are prone to breaking apart prematurely in the bloodstream, leading to anemia. The characteristic spherocytes, which are RBCs that have lost their biconcave shape and become spherical, are often seen in a blood smear under a microscope.
Here's the translation of the above explanation into Chinese:
遗传性球形细胞增多症是一种常染色体显性遗传病,这意味着它通常是从一位受影响的父母那里遗传而来。在这种遗传方式中,受影响个体的每个孩子都有50%的几率继承这种状况。该疾病是由导致红细胞(RBCs)结构完整性和稳定性的基因突变引起的。最常受影响的基因是谱蛋白、踝蛋白、带3蛋白和P55。
当这些基因发生突变时,红细胞变得更脆弱,并且容易在血流中过早破裂,导致贫血。特征性的球形细胞,即失去了双凹盘状形状并变成球形的红细胞,在显微镜下观察血涂片时经常可以看到。
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Studied at University of Michigan, Lives in Ann Arbor, MI
In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.
2023-04-14 14:03:56
Olivia Phillips
QuesHub.com delivers expert answers and knowledge to you.
In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.