I met a couple (first cousin) that was worried about their marriage and its consequences. They don't have any history of genetic disorders. How can I help them?
You may suggest them take regular tests regularly performed to screen some common diseases in Iran, including Down Syndrome, Thalassemia etc. You cannot rely on the pedigree, because some inherited diseases are dormant and cannot be seen in individuals who carry a mutant allele. I hope it works out for you.
Thanks for your suggestion. As you mentioned, I think they should also screen for common recessive disorders.Because pedigree would not very helpful alone.
There are many tests can be performed considering to population. I dont know which population have you been dealing. for example for Turkish and Armenians I advise thalassemia, thrombophilia panel and MEFV gene mutations because of high frequencies of the mutant allels. In cases of familial relationships these may helpful screening allels related with autosomal recessive disorders. Also X-linked disorders are deserve to spend attention. But its important to considering following matters:
1. First but first, Always draw pedigree for both families until 3 filiation at least. this is the first and most important step to giving a true consultation. This can help you to have a overall picture of the conditional history and inheritance of possible allels that connected to a genetic disorder for instance cancers, immunological illnesses, hematological disorders, single gen mutation disorders and ....
2. If any genetic condition was detected in the pedigree, survey the related genes and allels in both couples.
3. Generally conventional cytogenetics and karyotyping in not necessary.
4. If a low sperm quality detected in the male, I recommend AZF and SRY gene common mutations screening in order to infertility risk.
5. If I got married I have been screening mine and my wife's HLA antigens mismatch also her BRCA gene mutation, :)
There are a lot of tests that help you to test and monitor couples who like to have healthy child. out of them triple marker is one of the best methods to use. in this test you can determine trisomy 21 and other deficiencies. Also, you do not need to have pedigree when you can test CBC of couples to check Thalassemia which is very common in Iran along with Hb A2 electrophoresis. this test is an inexpensive test. By the way I would like to introduce the following website. I hope it could be useful.
Mr Reza. I can not understand why you said "do not need to have pedigree". Pedigree is always needed to consultation. Also parent cytogenetics in required when child had a chromosomal defect or in infertility cases but not in without clinics.
Thanks a lot for your answers and help. Because I haven't had any experience in genetic counseling, these suggestions are very helpful for me. As you both mentioned before, In Iranian race, Thalassemia is one of the most common recessive disorders which is the target for population screening program before marriage. How ever, testing for chromosomal disorders such as trisomies and Infertility is a good advice. But these need to draw pedigree.
I mean when you use Triple Marker or checking for thalassemia you do not need to have pedigree. In some situation in Iran,as you know, you cannot find out the pedigree readily so in this case you just need to determine the disorders based on the laboratory features so you can benefit from tests like HbA2 or Screening tests before pregnancy.