The name of five Brazilian cities, including Campinas, is being immortalized in international scientific literature thanks to the work of an important group from Unicamp, considered a reference in Latin America in the investigation of hemoglobinopathies, mutations that occur in hemoglobin (Hb) and that can cause diseases such as sickle cell anemia and thalassemia. When these altered molecules are described for the first time, it is customary to name them after the patient's place of origin. Thus, in recent years, the Hemoglobinopathies Laboratory Diagnosis Service of the Division and Department of Clinical Pathology of the Hospital das Clínicas and Faculty of Medical Sciences (FCM) together with the Blood Center identified Hb Rio Claro, Hb Poços de Caldas, Hb Joanópolis and Hb Paulínia, Hb Campinas, the latter predominant in the fetus.
The research work began in 1980, when doctor Fernando Ferreira Costa, current dean of Research at Unicamp, implemented the Hemoglobinopathies Laboratory Diagnosis Service. Currently, the person in charge of the laboratory is doctor Maria de Fátima Sonati, who completed a postgraduate degree studying hemoglobins and had her doctoral thesis supervised by Costa. Both are professors at FCM. With the collaboration of the Hemocentro, which carries out DNA analysis, the unit carries out approximately 150 diagnoses/month, in patients referred with clinical suspicion of hemoglobinopathies.
In addition, the Service has also been developing a systematic screening program for rare hemoglobin variants for around five years, with the analysis of 100 samples/day. This study has financial support from the São Paulo State Research Support Foundation (Fapesp). According to Professor Costa, the excellence of the research and the volume of tests carried out by the laboratory have made it one of the most active in the world in this area, becoming a reference for Latin America.
The dean explains that previously, when first described, hemoglobin was identified by the letters of the alphabet. When the number of anomalous hemoglobins became too large, researchers began to name them after the patients' city of origin. In the case of the Unicamp laboratory, five new variants were described, which borrowed the name from the Brazilian municipalities in which the carriers lived. These are already included in specialized publications, all in periodicals with international circulation.
In addition to the five variants, the Service also detected numerous hemoglobins previously described in other locations, such as Hb Coimbra, Hb Indianapolis, Hb Santa Ana, Hb Porto Alegre, Hb Zürich, Hb Köln and Hb Kurosaki, among others. “It is important to remember that these hemoglobin mutations may or may not cause clinical changes. However, these changes can often lead to the clarification of important biological phenomena”, explains Professor Costa.
Diseases – Hemoglobin is the protein that gives blood its red color. It is also responsible for transporting oxygen to all tissues in the human body. It happens, however, that this molecule sometimes presents mutations. One of them causes Hb A to be replaced by Hb S. People with two S genes can develop sickle cell anemia, a hereditary disease that predominantly affects people of African descent. This is because normal molecules when deoxygenated can change the shape of the red blood cell. This, which is rounded and elastic, takes on the shape of a sickle (hence the name sickle cell), which makes it difficult for it to circulate through the blood vessels.
This vascular obstruction can cause damage to various organs, the nervous system, bones, etc. Among the symptoms of sickle cell anemia are severe pain crises. Thalassemia, a disease also of hereditary nature, is known as Mediterranean Anemia, as it is more prevalent among descendants of Italians and Greeks, for example. Due to the mutation of the molecule, the body starts to “manufacture” hemoglobin in an unbalanced way, which can lead to illness. People with this disease are forced to undergo frequent blood transfusions. Among the most common symptoms presented by children with thalassemia are: paleness, discouragement, lack of appetite and underdevelopment.
Persistent anemia leads to enlargement of the spleen, liver and heart.
The Unicamp Blood Center, according to Professor Costa, is a reference in Brazil for the treatment of thalassemia and sickle cell anemia. The unit produces the largest number of international publications in this field among all Brazilian universities, with several original contributions to the treatment and diagnosis of these diseases.
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