Understanding your genes

5 -

World population are carriers of Thalassemia. 56,000 children are born with Thalassemia major/year ^(*)

7.5%

World population are carriers of G6PDd. 2,9% are G6PD deficient ^(**)

80%

of infants born with genetic abnormalities have healthy parents ^(***)

(*) Global Thalassemia Review 2023 - THALASSEMIA INTERNATIONAL FEDERATION

(**) WHO/UCN/GMP/MPAG/2022.01

(***) Blythe SA, et al. Clin Biochem. 1984; 17(5): 277-283

What is a recessive genetic disorder?

Patients are carriers of both copies of the genetic mutation or male carriers of the mutated gene on the sex chromosome. These people have typical clinical manifestations.

Moderate to severe symptoms

Carries two copies of the mutated gene

Carriers are those who carry one copy of the mutated gene and are typically asymptomatic or have mild symptoms.
A recessive genetic disorder is a disease caused by genetic mutation. Both parents must be carriers of the mutated gene to pass it on to their children.

Carries one copy of the mutated gene

Asymptomatic or mild symptoms

Autosomal recessive inheritance pattern

Even if the mother or father does not manifest symptoms, their children are still at risk of having a recessive genetic disorder.

Determine whether mother/father is a carrier. Nine investigated diseases have a high prevalence but are easily overlooked by conventional screening methods.

Children with an autosomal recessive disorder manifest symptoms when they inherit both copies of the mutated gene from their parents.

Support one free test for mutated gene in father/mother/child if the test participant has a positive result (in case of a positive result for G6PD deficiency, we don't perform the test for the father, only for the newborn).

Assist parents in making proactive choices regarding assisted reproductive techniques in order to eradicate disease-causing genes for the next generation.
Artificial insemination (IVF) or early prenatal diagnosis (amniocentesis).

Early diagnosis of common recessive genetic diseases of newborns for timely and effective treatment, reducing the risk of complications, and helping your children lead a normal life.