Carrier Screening and Prenatal Diagnosis of Hemoglobinopathies. A Study of Indigenous and Immigrant Couples in Northern Greece, Over the Last 5 Years

Abstract

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and thalassemias are the most frequent genetic disorders in Greece. Over a 5-year period (2002-2006), 1,375 couples were screened for hemoglobinopathies and counseled at our Thalassaemia Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. In 148 cases (10.7%), both partners carried an abnormal hemoglobin (Hb) gene and genetic counseling was offered. One hundred out of 116 pregnancies were at-risk of giving birth to an offspring carrying either the homozygous or double heterozygous forms of the mutations under discussion. The remaining 16 pregnancies involved couples who were heterozygous for mutations that did not cause severe clinical disease, and were exempted from prenatal diagnosis. Twenty-six fetuses were found to be homozygotes or double heterozygotes for clinically significant mutations. These couples were informed of the danger of having an affected child but the termination or continuation of the pregnancy was left to the couples to decide. Nevertheless, all the couples preferred to terminate the pregnancies. The National Thalassaemia Prevention Programme has effectively decreased the incidence of thalassemia major and sickle cell syndromes in Greece.

High resolution melting curve analysis targeting the HBB gene mutational hot-spot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh

“…Adoption of mass carrier screening, especially premarital and prenatal screening for carrier detection is required for proper counseling and goal-oriented motivation. In 1970s, the premarital screening programs were initiated in Greece and Cyprus and these proved to be huge successes in decreasing the total number of children being born with β-thalassaemia [ 31 , 32 ]. Then a number of countries where beta-thalassemia had high prevalence, adopted an approach similar to that of Greece and Cyprus in pursuit of beta-thalassemia prevention [ 33 ].…”

At‐Risk Marriages after Compulsory Premarital Testing and Counseling for β‐Thalassemia and Sickle Cell Disease in Saudi Arabia, 2005–2006

“…Genetic counseling sessions must include discussion about prenatal diagnosis as an option. The success of genetic counseling in reducing the incidence of sickle cell disease and thalassemia cases, in combination with premarital screening, has been proven worldwide (Theodoridou et al 2008 andStrauss 2009). However, it is important to balance religious beliefs against the possibility of termination of fetuses with untreatable genetic diseases (Cowan 2009).…”

Prenatal diagnosis of hemoglobinopathies in Tunisia: an 18 years of experience

“…In Tunisia, PND is offered free of charge as a public service and is always a couple's free choice, contrary to some other countries, where the prenatal diagnosis is mandatory in all at‐risk couples .…”