HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.
BACKGROUND
Structural hemoglobinopathies do not usually have a clinical impact, but they can interfere with the analytical determination of some parameters, such as the glycated hemoglobin in diabetic patients. Thalassemias represent a serious health problem in areas where their incidence is high. The defects in the post-translational modifications produce hyper-unstable hemoglobin that is not detected by most of electrophoretic or chromatographic methods that are available so far.


METHODS
We studied seven patients who belong to six unrelated families. The first two families were studied because they had peak abnormal hemoglobin (Hb) during routine analytical assays. The other four families were studied because they had microcytosis and hypochromia with normal HbA2 and HbF without iron deficiency. HbA2 and F quantification and abnormal Hb separation were performed by chromatographic and electrophoretic methods. The molecular characterization was performed using specific sequencing.


RESULTS
The Hb Puerta del Sol presents electrophoretic mobility and elution in HPLC that is different from HbA and similar to HbS. The electrophoretic and chromatographic profiles of the four other variants are normal and do not show any anomalies, and their identification was only possible with sequencing.


CONCLUSIONS
Some variants, such as Hb Valdecilla, Hb Gran Vía, Hb Macarena and Hb El Retiro, have significant clinical impact when they are associated with other forms of α-thalassemia, which could lead to more serious forms of this group of pathologies as for HbH disease. Therefore, it is important to maintain an adequate program for screening these diseases in countries where the prevalence is high to prevent the occurrence of severe forms.
Félix
http://orcid.org/0000-0003-0374-5393
F
de la Fuente-Gonzalo
Jorge M
http://orcid.org/0000-0001-9075-7100
JM
Nieto
Diego
D
Velasco
Elena
E
Cela
Germán
G
Pérez
Ana
A
Fernández-Teijeiro
Antonio
A
Escudero
Ana
A
Villegas
Fernando A
FA
González-Fernández
Paloma
P
Ropero
D000328:Adult; D000369:Aged, 80 and over; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D006403:Hematologic Tests; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis* / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged
D006454:Hemoglobins