Thalassemia and Gaucher May Be Linked Suggests A Surprising New Case Study

A new case study suggests that the blood disorder, thalassemia, may be present in people with Gaucher disease. Both diagnosis and treatment become more complicated if this hypothesis proves true. Keep reading, or follow the original story at Gaucher Disease News to learn more.

Physicians have published a new study in the Journal of Clinical and Diagnostic Research. The study is titled “Thalassemia Trait with Gaucher Disease: A Diagnostic Dilemma.” The paper describes the case of a one-and-a-half year old child. The child presented with weakness, and delayed development. Other symptoms include a lack of weight gain and distended stomach.

Physicians quickly identified the cause of the boy’s abdominal abnormality. The distension was caused by a swollen spleen and liver. The two organ had grown to a massive size. Blood tests revealed that the child was anemic and lacked platelets. As a result, clinicians further examined oxygen transporting hemoglobin in the child’s blood.

Increased levels of a specific hemoglobin type pointed to a diagnosis of thalassemia.

Thalessemia is an inherited disease. It is passed through genetic means. It primarily is responsible for the creation of abnormal types of hemoglobin within the body. In some cases, the mutation that a patient caries is minor. Symptoms are less dramatic in these cases. Instead of thalassemia, a patient is then said to possess thalassemia Trait. Doctors don’t typically discover this complication unless they are examining a patient for some other illness. Learn more about thalassemia here.

The child’s case, however, continued to prove perplexing. Upon further examination, doctors discovered the presence of Gaucher indicative cells in the bone marrow and liver. The boy’s spleen was also full of these Gaucher related cells. The medical team began to suspect at this point that the boy had Gaucher disease and thalassemia Trait at the same time.
After removal of the affected spleen, the child has not experienced any further symptoms.

Doctors on the team would like to point out, however, that an enlarged spleen can be a symptom of both thalassemia and Gaucher. The spleen can also, in both cases, result in low blood cell counts, and a low number of platelets. Such a similar list of symptoms makes it necessary to consider both conditions when diagnosing a patient. Not only that, but it makes it necessary to consider that a patient could suffer form both conditions simultaneously.

Treatment for thalassemia and Gaucher is different. An accurate diagnosis is a crucial step to providing care for patients in either group. This is especially true since both thalassemia and Gaucher may necessitate genetic counseling as part of a treatment plan.

The doctors that have worked together to publish their study were unable to find any previous published descriptions of a patient like their own. It would seem that the concurrent presence of Thalassemia and Gaucher is rarer than either of the two on their own. More investigation is necessary, but such observations and complications cannot be ignored.

Share this post