Cooley’s anemia is also called
The core concept here is the classification and terminology of thalassemia. Thalassemias are inherited disorders affecting hemoglobin synthesis. Cooley's anemia is the most severe form, which is also known as beta-thalassemia major. The correct answer should be beta-thalassemia major.
Now, why are the other options incorrect? Let's think. The options might include other types like beta-thalassemia intermedia, which is a milder form, or alpha-thalassemia, which is a different type of thalassemia altogether. There's also Cooley's anemia being the same as beta-thalassemia major, so any other name would be wrong. For example, if an option says "alpha-thalassemia major," that's incorrect because Cooley's is beta-related.
Clinical pearl: Remember that Cooley's anemia (beta-thalassemia major) presents in early childhood with severe anemia, requiring regular blood transfusions. The key is distinguishing between alpha and beta types, and the severity levels (major vs. intermedia vs. minor).
So the correct answer is D. Beta-thalassemia major. The other options are either different types or less severe forms. Need to make sure each wrong option is addressed with why it's incorrect. For example, if an option is beta-thalassemia intermedia, that's a milder form. Alpha-thalassemia major is a different genetic defect. Cooley's anemia is specifically beta-thalassemia major.
**Core Concept**
Cooley’s anemia is an inherited blood disorder caused by mutations in the **beta-globin gene (HBB)**, leading to defective hemoglobin synthesis. It is classified as **beta-thalassemia major**, the most severe form of beta-thalassemia, characterized by profound anemia and ineffective erythropoiesis.
**Why the Correct Answer is Right**
Cooley’s anemia is synonymous with **beta-thalassemia major**. This condition results from **homozygous or compound heterozygous mutations** in the HBB gene, causing severe reduction or absence of beta-globin chains. The lack of beta-globin disrupts hemoglobin A (α2β2) formation, leading to erythrocyte destruction and chronic anemia. Patients typically present in early childhood with growth retardation, hepatosplenomegaly, and require lifelong blood transfusions.
**Why Each Wrong Option is Incorrect**
**Option A:** *Alpha-thalassemia major* is incorrect because Cooley’s anemia involves beta-globin deficiency, not alpha-globin. Alpha-thalassemia major is lethal in utero due to hydrops fetalis.
**Option B:** *Beta-thalassemia intermedia* is incorrect; this form has milder symptoms and less transfusion dependency compared to beta-thalassemia