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Everything you ever wanted to know about ATR-X Syndrome.... and then some!
Compiled By David and Dayna Hughes
Web Site Design and Maintenance by David Hughes
Anaemia-Alpha Thalassemia
Haemoglobin is the oxygen carrying molecule in the blood and is packaged in the red blood cells. If the level of haemoglobin is reduced, the patient is described as having anaemia. If the level is very low then the patient will look "anaemic", and the skin and especially the lips, eyelids and tongue will be pale. In ATR-X syndrome the reduction in haemoglobin is usually very mild and only apparent on blood testing.
There are many causes of anaemia but in ATR-X it is due to a reduction in the manufacture of one of the proteins, Alpha globin, that makes up haemoglobin. This form of anaemia is called Alpha Thalassemia. The term 'Thalassemia' comes from the Greek for sea and the name derives from the fact this type of anemia is common in the Mediterranean. Although the anaemia in ATR-X shares the same name it has little else in common with the Mediterranean variety and this will be discussed further below.
Alpha Thalassemia can be diagnosed with a simple blood test. A drop of blood is mixed with blue dye and left to incubate for a few hours. A spot of this blood is then spread on a slide and looked at under the microscope. If Alpha Thalassemia is present then some of the red cells, instead of having a uniform blue colour, will appear to be full of blue dots (haemoglobin H inclusion). Haemoglobin is normally made up of 2 proteins, Alpha globin and Beta globin. In Alpha thalassemia there is a reduction in the amount of Alpha globin and consequently a relative excess of Beta globin. Some of this excess Beta globin combines on its own to form an abnormal protein called haemoglobin H which forms the blue dots when the cells are dyed.
It is a quick and useful test, but like all medical tests it is not foolproof. If the inclusions are plentiful then there is little doubt the test is positive and it is likely that the diagnosis of ATR-X is correct. Sometimes rare cells with inclusion may be seen in normal individuals and so if only occasional cells are seen in a patient it is not possible to say that this is ATR-X. If inclusions are not present, ATR-X is less likely to be the correct diagnosis. Nevertheless, it does not exclude ATR-X because we know of some cases in whom the genetic tests have establised the diagnosis of ATR-X although haemoglobin H inclusion are absent.
In our experience the anemia itself is usually very mild, does not lead to any problems and does not require any treatment. In particular, there is
Activities
Children with ATR-X Syndrome love going out in the community and participating in community events. They seem to enjoy the presence of other people and the "hub-bub" of excitement! Musical events such as concerts are very enjoyable for the children...the louder the better! Water activities are a huge favorite. Going to restaurants is a hit as well.
AFOs (Orthotics)
AFO stands for "ankle-foot orthotic". Orthotics are devices used to control abnormal foot function. They are used to realign the arch structure, realign in-toeing and out-toeing problems and realign and control the foot-ankle complex. AFOs help establish structural stability to improve mobility and they allow for ankle strategies to enhance balance. Several children with ATR-X have used orthotic insets, which are placed inside the shoe and parents have noted improvements. For further information speak with a physical therapist or orthopedist.
Airline Travel
