Question

Which of the following anomalies is an autosomal dominant disorder characterized by irregularly-sized inclusions in polymorphonuclear neutrophils, abnormal giant platelets and often thrombocytopenia?

1) Sickle cell anemia
2) Hemophilia
3) Fanconi anemia
4) May-Hegglin anomaly

Answer 1

The May-Hegglin anomaly is the autosomal dominant disorder characterized by irregularly-sized inclusions in polymorphonuclear neutrophils and abnormal giant platelets. It differs from Sickle cell anemia and other severe genetic disorders like cystic fibrosis and Tay-Sachs disease, which are autosomal recessive.

Step-by-step explanation:

The disorder characterized by irregularly-sized inclusions in polymorphonuclear neutrophils, abnormal giant platelets, and often thrombocytopenia is known as the May-Hegglin anomaly.

This is an autosomal dominant disorder, meaning it can be passed down from one affected parent to their child and it only requires one copy of the mutated gene to be present for the disorder to be expressed. Other genetic diseases that are inherited in this pattern include achondroplastic dwarfism, Marfan syndrome, and Huntington's disease.

In contrast, Sickle cell anemia is an autosomal recessive disorder, requiring two copies of the mutated gene for the disorder to manifest. Conditions such as cystic fibrosis and Tay-Sachs disease are also severe genetic disorders that are inherited in an autosomal recessive manner.