HbH disease in alpha-thalassemia occurs with how many defective alpha-globin genes?

Study for the CVP and GI Pathology Exam 1. Engage with flashcards and multiple-choice questions, each with hints and explanations. Prepare thoroughly for your test!

Multiple Choice

HbH disease in alpha-thalassemia occurs with how many defective alpha-globin genes?

Explanation:
HbH disease arises when three of the four alpha-globin genes are defective. Humans have two alpha-globin genes on each chromosome 16, totaling four. With three genes nonfunctional, there isn’t enough alpha-globin to pair with the beta-like chains, so excess beta chains form tetramers (HbH, beta4). These HbH tetramers cause hemolysis and anemia characteristic of the condition. If only one gene is defective, it's usually a silent carrier; two defective genes cause a mild alpha-thalassemia trait; all four defective lead to Hb Barts hydrops fetalis.

HbH disease arises when three of the four alpha-globin genes are defective. Humans have two alpha-globin genes on each chromosome 16, totaling four. With three genes nonfunctional, there isn’t enough alpha-globin to pair with the beta-like chains, so excess beta chains form tetramers (HbH, beta4). These HbH tetramers cause hemolysis and anemia characteristic of the condition. If only one gene is defective, it's usually a silent carrier; two defective genes cause a mild alpha-thalassemia trait; all four defective lead to Hb Barts hydrops fetalis.

Subscribe

Get the latest from Passetra

You can unsubscribe at any time. Read our privacy policy