Julio Lautersztain, MD Co-Authors Study on Novel Co-Inheritance of Beta Globin and Spectrin Mutations

Fort Myers, Fla., April 27, 2021 — Julio Lautersztain, MD, medical oncologist who practices at Florida Cancer Specialists & Research Institute (FCS) locations in Tampa and Brandon, is co-author of a new study entitled “Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations.”  Published online in March 2021 in the American Journal of Hematology (AJH), the study demonstrates the diagnostic challenges stemming from the case of a patient seen at the FCS Tampa Cancer Center with co‐inheritance of defects in the red blood cell (RBC) membrane and associated hemoglobinopathy (in which there is abnormal structure and/or production of the hemoglobin molecule).

This study was derived from the referral in 2017 of Dr. Lautersztain’s patient, a 59-year-old man originally from the Dominican Republic, who presented with severe hemolytic anemia (anemia resulting from the destruction of red cells), and two of his children, who had been diagnosed in the past with a hemolytic anemia. Laboratory investigation of the patient’s red cells was carried out by Dr. Josef Prchal of the University of Utah and a team of U.S. researchers and was described in an abstract that was first presented at the 2018 American Society of Hematology (ASH) national conference, and subsequently published in the American Journal of Hematology. The research encompassed an extensive array of assays and tests, which led to the finding of a novel beta globin gene mutation that results in the condition called beta thalassemia, baptized Hemoglobin Santo Domingo. It also uncovered in this patient the co-inheritance of two red cell membrane alpha-spectrin gene (SPTA1) mutations.

Researchers also evaluated and tested the patient’s children and his wife. The mother had sickle cell trait and passed the hemoglobin S gene to all three children, but only two inherited Hemoglobin Santo Domingo. These two children had been clinically diagnosed in the past by their pediatricians as having hereditary spherocytosis, an inherited disease that adversely affects the red blood cells.

This new original research resulted from a clinical/laboratory collaboration between Florida Cancer Specialists & Research Institute (Dr. Lautersztain) and Dr. Josef Prchal, renowned hematologist and researcher at the University of Utah, and should encourage more such interactions in the future, stemming from the wealth of clinical cases seen every day at Florida Cancer Specialists.

To access the full article: https://onlinelibrary.wiley.com/doi/10.1002/ajh.26121