Background on thalassemias | The thalassemias are a heterogeneous group of hered

Question

Background on thalassemias | The thalassemias are a heterogeneous group of hereditary anemias that constitute the most common gene disorder in the world, with a carrier rate of almost 7%. The disease was first discovered in countries around the Mediterranean Sea and was named for the Greek word "Thalassa," meaning "sea." However, it is also present in areas extending into India and China that are near the Equator. The thalassemia syndromes are caused by mutations that decrease or abolish the synthesis of the alpha- or beta-chains in the adult hemoglobin A tetramer. Individual syndromes are names according to the chain whose synthesis is affected and the severity of the deficiency. This, in beta^0-thalassemia, the superscript 0 denotes none of the beta-chain is present; in beta^+-thalassemia, the + denotes a partial reduction in the synthesis of the beta-chain. More than 170 different mutations have been identified that cause beta-thalassemia. Anne Niemet | Anne is a 4-year-old girl of Mediterranean ancestry whose height and body weight are below the 20^th percentile for girls of her age. She is listless, tires easily, and complains of loss of appetite and shortness of breath on exertion. A dill pain has been present in her upper right quadrant for the last 3 months. Her complexion is slate-gray and she appears pale. Initial laboratory studies indicate a severe anemia (decreased red blood cell count) with a hemoglobin of 6.2 g/dL (reference range, 12 to 16 g/dL). A battery of hematologic tests shows that Anne has beta^+-thalassemia, intermediate type (produces an intermediate amount of functional hemoglobin). Reference: M. and Marks, A.D. (2009) Marks' Basic Medical Biochemistry: A Clinical Approach. Lippincott Williams & Wilkins. The beta-subunit produced in Anne's type of thalassemia is normal with respect to structure and function - it is simply produced in reduced quantities. What process(es) could be affected, leading to the reduced beta-globin?

Explanation / Answer

Patients may require episodic blood transfusions. Iron over load occurs and require chelation theraphy

Iron deposition in liver can occur can also affect lungs

And can also result in asthama

If beta globin is not formed proper Hemoglobin and as result oxygen is not properly entrapped in hemoglobin and anemia can also occurs due to less oxygenated blood and decrement in hemoglobin protein

Related Questions

Navigate

• Browse (All)
• Browse B
• Subjects

---

---

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.