It’s all in the family

AlexandraFiott

Whatever you inherit comes from your biological family. Unfortunately, this includes disease. Talking about inherited conditions can make people anxious, making them unwilling to discuss the issue with their relatives. After speaking to a number of people my impression is that it seems taboo to discuss these things. People seem to feel that they will be stigmatised or treated differently because of a genetic condition.

A fear of social stigma hinders beneficial research. Research needs the collaboration of patients, since by investigating their condition researchers can in the long run develop a treatment or therapy. Not only that, but avoiding certain discussions means that relatives who might be at risk of developing the same problem would not be aware of it. If a condition is detected too late there might be very little that can be done.

It is very useful to discuss these matters with your family and speak to your doctor together. By building a medical family tree you can easily see who might inherit what. This way, your relatives will learn more about their health and then seek treatment. For example, a cousin might learn that she has an increased risk of breast cancer and would therefore attend screening sessions to catch the cancer before it spreads. Not knowing that something is there does not make it go away but discussing medical matters with your family could save a relative’s life.

“It is very useful to discuss these matters with your family and speak to your doctor together”

Scientific studies need family medical information. Scientific studies using family trees have already shown how useful this information is in identifying families with a high risk for inheritable cancers, like colon and breast cancer. Other research showed that families can benefit from preventative treatments against cardiovascular diseases like diabetes.

Local research has recently used this technique to find new genes, knowledge that can be developed for new treatments. The researchers were studying the genetic background of the protein which carries oxygen in our blood, haemoglobin. This protein switches from foetal haemoglobin to adult haemoglobin 3–6 months after birth. People with thalassemia have a problem with the adult version. Therefore, by studying local families that naturally cope well with the disease, they discovered the KLF1 gene that compensates for the malfunctioning adult protein by raising foetal haemoglobin levels. This was only possible with the help of family trees.

Speaking to a doctor to prepare a medical family tree (pictured) is done in the strictest confidentiality. You may also create your family medical history on https://familyhistory.hhs.gov/fhh-web/home.action to discuss with your family and doctor. I believe that it is in our best interest, apart from being potentially beneficial to the rest of humankind, to help in the creation of our own family medical trees.

If you have any queries when your physician or consultant asks you to prepare a family tree feel free to discuss them rather than avoiding family trees.

Diabetes: from genes to blood

Alexandra Fiott
Alexandra Fiott

Type 2 diabetes mellitus is a disease that affects over 250 million people worldwide. Many in Malta suffer from the disease because of our high carbohydrate diet and lack of physical activity. Type 2 diabetes arises when levels of the sugar glucose remain very high in the blood. Testing normally involves frequent finger pricks to determine blood sugar levels, or otherwise a patient can take a sugary drink followed by regular urine/blood testing over 2 or more hours.

Alexandra Fiott (supervised by Prof. A. Felice) studied whether the absolute HbA1c levels (the haemoglobin fraction with sugar attached multiplied by the haemoglobin concentration) would provide a better method to describe the link between one’s genetics and diabetic condition. She attempted to reduce the frequency of the testing needed while using a relatively non-invasive test — the withdrawing of one tube of blood, while investigating the genetics of diabetes.

Haemoglobin (Hb) transports oxygen throughout the blood through red blood cells. The HbA1c forms when glucose binds to haemoglobin. This can be used as an indirect measure of average blood sugar concentrations. Measuring HbA1c levels is rapid, but unfortunately the results are influenced by factors that affect red blood cells. With around 5% of Maltese having red blood cell disorders, an alternative measurement would help reduce inaccurate results and unnecessary worry for patients. The absolute HbA1c was used for this study.

The genetics and blood profile of five different patient groups were determined using genetic and biochemical methods: adults with a normal blood profile, anaemics, beta-thalassaemics, pregnant women, and type 2 diabetics (on limited treatment). Statistical analysis did not reveal an improved link, but the absolute HbA1c did help distinguish between the different patient groups.

To improve the reliability of these results, a separate set of experiments was carried out to see whether a known Maltese variation in haemoglobin, with a prevalence of around 1.8% in the Maltese population, has an effect on the amount of sugar that binds to the haemoglobin. This variant was found not to influence the blood glucose levels and therefore the HbA1c.

Taken together these results showed that the absolute HbA1c does not improve the link between the genetics and blood profile of the patients. However, it could distinguish between different groups of patients.

 

This research was performed as part of an M.Sc. (Melit.) in Biomedical Sciences at the Faculty of Medicine and Surgery at the University of Malta.