Team:CMUQ/InterviewOne
Dr. Anan Haffar American Board Certified Pediatric, specialist in Immunology and infectious diseases .
Over 35 years of experience in Syria of dealing with family of various socioeconomic backgrounds.
- Having known hundreds of families with consanguineous marriage, how crucial do you think it is to have a quick, affordable test for common genetic diseases?
It is very important to have an accessible test done on patients whether here in the clinic or on-field in refugee camps. Consanguineous marriage is very common in Syria and generally in the Middle East, and unfortunately there is yet so many parents who have not received the adequate education for them to be aware of these genetic disease. Hence many of them do not see the necessity to undergo a genetic disorder screening before marriage or for the newborn. Moreover, there are only 2 clinical laboratories here in Damascus that can screen for genetic diseases, and the result take about a month to come out. - What are common genetic screening methods?
The newborn screening here in Syria is knowing as “profile III” where the heel of the baby gets pricked to collect some blood samples, then these samples get sent to the lab for screening. - Are there any important genetic diseases that there is no local mean to screen for?
As for newborns or children, the most common disorders can be screened for in the discussed lab work. One of the very rare inherited genetic disease is muscular dystrophy (X-linked recessive pattern) which often is not screened for locally.
Dr. Khaled Al Homsi Doctor and Laboratory Medicine Specialist
- Is it common for people in Syria to check for Thalassemia and Sickle Cell Anemia?
“To begin with, patients usually come with a referral from the doctor to have a complete blood count (CBC), after that if any abnormal quantities show such as for example, low hemoglobin (below 10) or low MCH (Mean Corpuscular Hemoglobin), MCV (Mean Corpuscular Volume), we notice that there might be suspension of thalassemia.. We refer the patient to undergo a hemoglobin electrophoresis test, if we then notice that in the Hemoglobin Capillary Electrophoresis peaks any abnormality (Hb A1, Hb F, Hb A2, Hb S) we can then we investigate in the case to finally make the conclusion whether the patient has Sickle Cell Anemia or Thalassemia. But to specifically answer your question, it is not common for patients to check for genetic disorders from the start, full screening is extremely rare despite its significance” - According to the American Board of Medicine it is recommended that a neonatal full genetic disorder screening happens for each newborn, do doctors ask for it here ?
“Unfortunately, the neonatal screening is not being requested much in Syria, I think only one known pediatric asks for it. Nevertheless, the more common lab work that gets requested is that for couples who are on the doors of marriage, the couples request a full CBC to avoid having an infected offspring, especially if there is a consanguinity. In other cases, however, people are sadly unaware of the importance of genetic screening. The ignorance from both the parents and the doctors, despite the significance of screening whether for carriers people or infected. “ - When is thalassemia found positive?
“When we do a hematology test, we examine the following four hemoglobins: HbA, HbA2, HbF, and HbS. The normal, and naturally highest type of hemoglobin that should have a percentage of 94-96% is HbA, if the HbA2 level seems high and there is an evidence of HbF, that is when suspect of being a thalassemia carrier. In fact, the HbF should not exceed a percentage of 1.5-2 % ,if it does we know something is abnormal. Although each laboratory has certain benchlines, with very small differences, we all agree that the increase HbA2 happens on the expense of HbA. and the rise of HbF level accompanying an increase of HbS indicate that the individually is infected with Sickle Cell Anemia. Most of the people that we encounter in the lab are carriers, but we have dealt with a small percentage of infected patients” - What are the next steps after Sickle Cell Anemia or Thalassemia?
For infected patients, there is going to a mandatory blood transfusion every single month, and depending on the mental health and stress they encounter, any sever sadness or angriness they face, they will need have more frequent blood transfusion. Carriers, on the other hand are often prescribed folic acid. - What diseases or viral infections you believe are important to be detected on the spot, for instance in refugee camps or so?
“Any disease that is contagious or infectious should be screened for, for instance Tuberculosis, Sexually Transmitted Diseases, Rubella, Measles, Coaxcela. HIV, Malaria, Brucella. It is also important to consider the mentioned especially that a lot are donating blood or organs.” - What are the most common lab work the doctors ask for ? And what are the ones that emergency or operation rooms request?
CBC, and for Hematology tests, Prothrombin Time (PT) is often requested to check on the blood viscosity ( not too thin nor near to clotting). This is important, especially for the elderly who consume blood thinning medication to avoid having blood clot. To be detailed, for example when an operation is to be decided, three tests should always be requested without any exceptions: Blood type, Glucose levels, Platelet Counts, and the co-factors: clotting time tests, such as prothrombin time (PT) and partial thromboplastin time (PTT) the vWF antigen test (which checks blood levels of vWF). That is because patients with the diabetes for example, experience a huge blood loss during operations and there clotting time is low, hence a blood transfusion is often needed”
Thankfully the doctor I interviewed was very interested in our project, and would like to be updated with what we accomplish, - He elaborated about PCR saying that:
“ It costs me about $100 for every PCR I run, PCR is very expensive, it needs an expert and it need rime, and as I understood that your project is working to create an inexpensive, easy, and relatively quick test, so make sure everything is specific and it would a revolutionary product if PCR was to be avoided; so much can be saved!” - He also added some highlights about Saliva saying that :
“some things to consider about saliva is its weakness points, such as its rapid change of chemical changes and physical traits once its out of the human body. Yet, any cell has a DNA and since your endeavor is to just have a yes or no type of diagnostic tests without any sort of quantifying, then saliva is an ideal noninvasive, low hazard body fluid”