Homozygous Hemoglobinosis CC: A Series of 3 Cases and a Review of the Literature

Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical hematology department of Dakar. The 1st case is a 49-year-old female patient, with notion of 1st degree consanguinity, and a long history of abdominal pain who presented a poorly tolerated anemic syndrome and splenomegaly. The biological assessment showed moderate anemia (7.6 g/dL) with microcytic hypochromia and a CC profile (HbC = 99.2%;HbA2 = 0.8%) on hemoglobin electrophoresis. The second case was a 22-year-old female patient with a notion of 2nd degree consanguinity who presented a Chauffard triad. The haemogram showed mild anaemia (11 g/dL), microcytic and hypochromic. Hemoglobin electrophoresis confirmed a CC profile (HbC = 95.3%;HbA2 = 4.7%). The third patient was 27 years old, with a history of diffuse abdominal pain and 2nd degree consanguinity. The haemogram and haemoglobin electrophoresis confirmed the CC profile (HbC = 94.6%;HbA2 = 5.4%). The negativity of the Emmel test in front of this presentation suggestive of sickle cell disease means that this type of hemoglobinopathy is diagnosed late in our regions. We therefore recommend the systematic performance of hemoglobin electrophoresis in the presence of any chronic hemolytic anemia.

Comparison of Hematological Parameters and Critical Value Analysis in the Prevention and Control of Thalassaemia in Hainan Li and Han Nationalities

Objective: To compare the distribution of “mean corpuscular hemoglobin”-MCV, “mean corpuscular volume”-MCH, “hemoglobin”-HGB, “hemoglobin A”-HbA and “hemoglobin A2”-HbA2 in α and β thalassemia hematology screening between Li and Han nationality, and analyze the best diagnostic cut-off value. Methods: Select 7816 middle school students from Li nationality area as the research object, collect peripheral blood for blood cell analysis, hemoglobin electrophoresis and thalassaemia gene detection, and compare the difference in hematological parameters of common thalassemia genotype between Li and Han nationalities. Taking the genetic test results as the gold standard, construct the receiver operator characteristic curve (ROC curve) of relevant hematology parameters, calculate the Youden index and take its maximum diagnostic cut-off point as the best critical value. Results: Comparison of hematological parameters of common thalassemia genotypes showed that the average value of MCH and MCV of -α3.7/-α4.2 type in Li nationality was lower than that of Han nationality, and the average value of HbA2 of CD41-42/βN type was higher than that of Han nationality, there was no significant difference among other genotypes. ROC curve analysis shows that the MCH, MCV, and HGB values have poor diagnostic efficiency for thalassaemia, HbA has a slightly better diagnostic efficiency for α thalassaemia, and the optimal cut-off values of HbA for Li and Han nationalities are 96.95% and 97.75%, respectively;HbA2 has better screening efficiency for β-thalassemia, and the optimal cut-off values of HbA2 for Li and Han nationalities are 4.20% and 3.45% respectively. Conclusion: In the prevention and control screening of thalassaemia in the Li and Han nationalities, hemoglobin electrophoresis technology has a better diagnostic efficiency.