Contributions
Abstract: PB1981
Type: Publication Only
Background
Hemoglobin (Hb) Louisville is an unstable hemoglobin that was first described in 1971 in a Caucasian family by Keeling et at, and simultaneously in a Romanian family by Bratu et al, who named this variant Hb Bucuresti. The Hb Louisville heterozygotes suffered from mild anemia with hemolytic crisis and showed a decreased oxygen affinity. In some cases, severe hemolytic reactions were produced by infections and oxidant drugs.
It has been demonstrated that the antioxidant action of N-acetyl cysteine (NAC) helps improve markers of oxidative stress and hemolysis in sickle cell disease (SCD).
Aims
Since NAC is a safe, inexpensive drug, that has been used for many years for numerous indications and, as there is no other treatment that can be offered at the moment, it has been decided to try this drug in a family of patients with Hb Louisville.
Methods
Four members of the same family, who suffered from Hb Louisville, treated with NAC for the last three months (1-5), and who are still receiving the treatment till the present time. Hemoglobin, LDH and bilirubin levels were analyzed before and after the treatment started. In every visit to the hospital, the patients were asked about their quality of life and the presence of any symptoms.
Results
No adverse effects related to the drug’s administration were observed. Not a single change in either hemoglobin levels or in hemolytic parameters was detected until now. Nonetheless, the patients did report a significant improvement in relation to their symptomatology. This analysis will keep on and further updated results will be presented at the European Congress.
Conclusion
Given this hemoglobinopathy’s low frequency, it is extremely difficult to assemble an adequate number of cases in order to carry out a systematic study. Nevertheless, taking into consideration the absence of NAC’s side effects, it seems appropriate to conclude that this drug can be offered to patients suffering from the heterozygous trait of unstable hemoglobinopathies.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Hemoglobinopathy, Treatment
Abstract: PB1981
Type: Publication Only
Background
Hemoglobin (Hb) Louisville is an unstable hemoglobin that was first described in 1971 in a Caucasian family by Keeling et at, and simultaneously in a Romanian family by Bratu et al, who named this variant Hb Bucuresti. The Hb Louisville heterozygotes suffered from mild anemia with hemolytic crisis and showed a decreased oxygen affinity. In some cases, severe hemolytic reactions were produced by infections and oxidant drugs.
It has been demonstrated that the antioxidant action of N-acetyl cysteine (NAC) helps improve markers of oxidative stress and hemolysis in sickle cell disease (SCD).
Aims
Since NAC is a safe, inexpensive drug, that has been used for many years for numerous indications and, as there is no other treatment that can be offered at the moment, it has been decided to try this drug in a family of patients with Hb Louisville.
Methods
Four members of the same family, who suffered from Hb Louisville, treated with NAC for the last three months (1-5), and who are still receiving the treatment till the present time. Hemoglobin, LDH and bilirubin levels were analyzed before and after the treatment started. In every visit to the hospital, the patients were asked about their quality of life and the presence of any symptoms.
Results
No adverse effects related to the drug’s administration were observed. Not a single change in either hemoglobin levels or in hemolytic parameters was detected until now. Nonetheless, the patients did report a significant improvement in relation to their symptomatology. This analysis will keep on and further updated results will be presented at the European Congress.
Conclusion
Given this hemoglobinopathy’s low frequency, it is extremely difficult to assemble an adequate number of cases in order to carry out a systematic study. Nevertheless, taking into consideration the absence of NAC’s side effects, it seems appropriate to conclude that this drug can be offered to patients suffering from the heterozygous trait of unstable hemoglobinopathies.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Hemoglobinopathy, Treatment