If the level of sucrase activity is below the level considered necessary for normal sucrase function, the patient will be diagnosed with CSID.Noninvasive diagnostic methods include two breath tests, which can be useful screening tools but are not specific enough for a confirmed diagnosis of CSID.The first of these is the hydrogen/methane breath test, which measures the amount of hydrogen and methane gases a person exhales after consuming sugary water. The exhaled breath is collected in sealed test tubes at 30-minute intervals over a three-hour period after drinking the sugary water. If a person has CSID and there are little or no working sucrase-isomaltase enzymes in the intestines, greater than normal levels of hydrogen and/or methane are generated and exhaled in the breath. However, there may be other reasons why the person is exhaling excess hydrogen and/or methane gas, such as an overgrowth of bacteria in the small intestine, called small intestinal bacterial overgrowth (SIBO).The second breath test is called the carbon-13 (13C) breath test. Carbon-13 is a stable isotope of carbon that occurs naturally in sucrose, making it possible to track a person’s ability to digest and absorb sucrose by measuring the amount of 13CO2 exhaled after drinking a sugar-water solution. In this breath test, the exhaled breath is collected in sealed test tubes at 30-minute intervals over a 90-minute period after drinking the sugar-water solution.
Some cases have been reported that the anemia is reversed or heme level is improved through use of moderate to high doses of pyridoxine (vitamin B6). In severe cases of SBA, bone marrow transplant is also an option with limited information about the success rate. Some cases are listed on MedLine and various other medical sites. In the case of isoniazid-induced sideroblastic anemia, the addition of B6 is sufficient to correct the anemia. Deferoxamine, a chelating agent, is used to treat iron overload from transfusions. Therapeutic phlebotomy can be used to manage iron overload. Prognosis
Sideroblastic anemias are often described as responsive or non-responsive in terms of increased hemoglobin levels to pharmacological doses of vitamin B6.1- Congenital: 80% are responsive, though the anemia does not completely resolve. 2- Acquired clonal: 40% are responsive, but the response may be minimal. 3- Acquired reversible: 60% are responsive, but course depends on treatment of the underlying cause. Severe refractory sideroblastic anemias requiring regular transfusions and/or that undergo leukemic transformation (5–10%) significantly reduce life expectancy. See also
Anemia
Siderosis
List of hematologic conditions
Hematopoietic stem cell transplantation

References
External links

GeneReviews/NCBI/NIH/UW entry on X-Linked Sideroblastic Anemia and Ataxia