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Vol. 44. Núm. S2.
Páginas S281-S282 (Outubro 2022)
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Vol. 44. Núm. S2.
Páginas S281-S282 (Outubro 2022)
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CLINICAL AND HEMORRHAGIC PROFILES OF HEMOPHILIA A FEMALE CARRIERS OF INTRON 22 INVERSION
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CGR Matosinho, SSDA Perpétuo, DG Chaves
Fundação Centro de Hematologia e Hemoterapia do Estado de Minas Gerais (Hemominas), Belo Horizonte, MG, Brazil
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Vol. 44. Núm S2
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According to the Ministry of Health, Brazil had 10,821 patients diagnosed with hemophilia A (HA) in 2019 and with Minas Gerais had the third largest population of HA patients. Fundação Hemominas is a reference treatment center in this state for the clinical and laboratory care of these patients. HA is an X-linked coagulopathy caused by a deficiency of coagulation factor VIII (FVIII). Almost all patients are male, and females are considered carriers if they have an X chromosome with a mutation in the FVIII gene. In addition, it is estimated that there are 1.6 female carriers for every male HA patient. HA Carriers are classified into five categories based on residual plasma FVIII level (FVIII:C) and phenotype: (i) FVIII:C > 40% with bleeding phenotypes are classified as symptomatic; (ii) FVIII:C > 40% without bleeding phenotypes are classified as asymptomatic; (iii) FVIII:C > 5% to 40% are classified as mild HA; (iv) FVIII:C 1% to 5% are classified as moderate HA; and (v) FVIII:C < 1% are classified as severe HA. The aim of this study was to analyze the clinical and hemorrhagic profiles of female relatives of patients with severe HA with intron-22 inversion treated at Fundação Hemominas and older than 12 years. To date, sixteen participants have been enrolled in the study after signing an informed consent form. Participants answered two questionnaires: 1) evaluation of bleeding - ISTH (BAT-ISTH); and 2) evaluation of arthralgia. Peripheral blood samples were collected in a citrate tube and processed for DNA extraction. Genotyping to identify intron 22 inversion was performed by inverse PCR. Of the 16 participants, seven (44%) were identified as carriers of the mutation. Among the carriers, the median (MED) age was 35 years (IQR 34 - 35.5) and the bleeding score MED was 6 (IQR 4.8 - 9). In addition, carriers reported pain in the joints of the shoulders (3 – 42.9%), hips (2 – 28.6%), knees (2 – 28.6%), and ankles (2 – 28.6%). For participants who were not carriers, the age MED was 36 years (IQR 30 - 56) and the bleeding score MED was 4 (IQR 1 - 7). In addition, participants who were not carriers had pain in all joints studied, i.e., shoulders (3 – 33.33%), elbows (1 – 11.11%), hips (2 – 22.22%), knees (4 – 44.44%), and ankles (2 – 22.22%). Molecular diagnosis was important to identify family members with intron-22 inversion and to provide appropriate genetic counseling for family planning. A significant statistical difference (p = 0.019) was found between carriers and non-carriers in bleeding score. This is an ongoing study and the number of participants needs to be increased in order to draw conclusions. We thank all participants, Fapemig, Fundação Hemominas, and the CGSH of the Ministry of Health.

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Hematology, Transfusion and Cell Therapy
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