METHOD FOR PREDICTION OF CLINICAL COURSE OF HAEMOPHILIA WITH LEVEL OF ACTIVITY FACTORS VIII, IX Russian patent published in 2019 - IPC G01N33/50 C12Q1/6827 

Abstract RU 2698453 C1

FIELD: medicine.

SUBSTANCE: invention refers to medicine, namely to laboratory diagnostics, based on a genetic method of detecting criteria that testifies to severity of clinical course of haemophilia. Disclosed is a method for predicting a clinical course of haemophilia with level of activity of factors VIII, XI < 1 % by analysing single nucleotide polymorphisms of human folate metabolism genes, including complex determination of polymorphisms of genes MTHFR:677, MTHFR:1298, MTR:2756, MTRR:66. Gene evaluation in homozygous and heterozygous states is carried out in accordance with a point scale, assigning genetic factors the following values: MTHFR:677 C/T – 3 points, MTHFR:677 T/T – 5 points, MTHFR:1298 A/C – 3 points, MTHFR:1298 C/C – 5 points, MTR:2756 A/G – 1 point, MTR:2756 G/G – 2 points, MTRR:66 A/G – 1 point, MTRR:66 G/G – 2 points; with a total score of 10 and more, the clinical course of the clinical course is predicted, 5–9 points – moderate, 4 points or less – severe.

EFFECT: invention enables prescribing an adequate drug therapy and establishing a risk of haemorrhagic complications in haemophilia patients.

1 cl, 1 tbl, 2 ex

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RU 2 698 453 C1

Authors

Poponina Elena Aleksandrovna

Butina Elena Vladimirovna

Timofeeva Margarita Arkadevna

Dates

2019-08-27Published

2019-04-02Filed