Thread by @HermelinMD

🌟Just released! Outstanding @bloodbankguy 🎧podcast w/ Dr. Sujit Sheth. Comprehensive discussion on transfusion-dependent #thalassemia focusing on pathogenesis, terminology & role of transfusion support. Listen now for CE credit.
For the pearls, follow the #Tweetorial below👇🏽

https://twitter.com/bloodbankguy/status/1499150971548561413

Derived from the Greek word “thal” or sea🌊thalassemia known as Mediterranean anemia, is an anemia affecting 1.5% of the world population along the “thalassemia belt” extending from the Mediterranean, the Middle East, India, SoutheastAsia, up to China. Like SCD, thalassemias are:

Thalassemias are also hereditary and may offer protection against malaria. However, unlike #sicklecelldisease which results in qualitative Hb defects, thalassemia causes a quantitative defects in either Hb α or β chains causing both ineffective erythropoiesis and anemia.

⁉️The most common type of symptomatic thalassemias are due to defects in which hemoglobin chain?

The most common type of symptomatic thalassemia effects the β globin gene, called β thalassemias. Based on symptoms and genetic mutations, thalassemias historically were subdivided into major-severe ( β0/β0), intermediate ( β+/β+ ) or minor.

🗣️Today the terminology has changed. Patients with severe symptoms are simply termed “transfusion-dependent thalassemia.”
⁉️According to Dr. Sheth, how many transfusion episodes per year qualifies to meet the criteria for transfusion-dependent-thalassemia?

Transfusion-dependent thalassemias are patients who require 8 or more transfusions in a year. According to 2021 Guidelines, (thalassemia.org/boduw/wp-conte…), the goal of transfusion therapy is to maintain pre-transfusion Hb level between 9.5 and 10.5 mg/dL.
⁉️Why is this important?

Patients with thalassemias develop anemia and consequences of ineffective erythropoiesis due to precipitation of abnormal Hb chains which bind iron and form "hemichromes." These are toxic to developing RBCs causing apoptosis and death of erythroid precursors ☠️

This stimulates erythropoietin which expands the bone marrow & increases extramedullary hematopoiesis. Ineffective erythropoiesis suppresses hepcidin, the master regulator of Fe metabolism, leading to increased iron absorption🩸Transfusion support suppresses EPO and Fe overload.

In terms of the special needs for red cells, Dr. Sheth recommends phenotypically matching Rh and Kell antigens to prevent alloimmunization, and providing fresher units of blood to offer #thalassemia patients the longest red cell survival.

In addition to red blood cell transfusion support, oral chelation therapy to treat iron overload is a mainstay treatment.
🌠Finally, Dr. Sheth expressed his dream of transfusion-independent #thalessemia, curing through 🧬lentiviral gene therapy, autologous transplantation.

Learn more about this important topic, listen to the @bloodbankguy 🎧🩸 podcast bbguy.org/2022/03/02/094/.
Also, check out this great @NEJM article β-Thalassemias |👉🏽📰 www-nejm-org.ezp.slu.edu/doi/full/10.10…
🙏🏽Please share your experiences with treating β-Thalassemia patients below 🧬🩸