Maltese family offers Dutch, Maltese scientists anemia breakthrough

The KLF1 blood protein, which regulates the production of the oxygen carrier hemoglobin, is less active in many members of a Maltese family, but this defect appears to have a beneficial side effect - their blood is more capable of absorbing and transporting oxygen, researchers from Erasmus Medical Center (MC) said.

The research was carried out by the Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, Faculty of Medicine) and The Thalassaemia Clinic at Mater Dei Hospital, worked with collaborators from the Erasmus Medical Centre, Rotterdam, The Netherlands, and the University of Patras, Greece.

The research groups described the inheritance of a particular molecule that arrested the gene switching from the Haemoglobin types of the newborn to those of the adult in a family from Malta (Read research abstract - pdf)

Haemoglobin is the molecule that makes blood appear red. It carries out the essential function of transporting oxygen from the lungs to the tissues. There are a number of haemoglobin molecules that are subject to complex gene control during development, and a number of Haemoglobin disorders.

"If patients were to have the same KLF1 protein as the Maltese family the transportation of their oxygen would then improve. This would greatly reduce the symptoms of their disease," Sjaak Philipsen from Erasmus MC's Cell Biology department said, "They may possibly be able to live a life without blood transfusions."

The finding showed the production of hemoglobin in the Maltese family is similar to that of unborn babies. As babies take oxygen from their mother's blood, they produce a type of hemoglobin that binds with oxygen better than adult hemoglobin. When the KLF1 blood protein is less active, more so-called fetal hemoglobin enters into the blood, resulting in improved uptake and transport of oxygen.

The researchers have already succeeded in the laboratory in changing the protein in human cells so that they show the same characteristics as the protein in the Maltese family. This is a major breakthrough long-awaited by scientists worldwide, and it will be published in the August edition of the leading journal Nature Genetics.

"Follow-up research will enable us to determine whether it is also possible to change the protein in patients in such a way that the uptake and transport of oxygen can be improved," Philipsen said.

Every year 300,000 new anemia patients are born worldwide. In Netherlands hereditary anemia is expanding as well.