ABSTRACT
Structural hemoglobin (Hb) variants are mainly due to point mutations in the globin genes resulting in single amino acid substitutions. Until date, about 200 alpha chain variants have been identified and they are usually detected during the hemoglobinopathy screening programs. Under a community control program for hemoglobinopathies, which involved screening of antenatal cases followed by prenatal diagnosis if indicated. Here, we report a rare alpha globin gene variant Hb Fontainebleau [a21(B2)Ala>Pro] detected in the heterozygous condition in a 35‑year‑old pregnant lady screened during this program. This is the second report of this alpha globin variant from India. Unlike the earlier case from India where Hb Fontainebleau was reported in a neonate who was also a carrier of Hb Sickle and had no clinical problems, this case presented with a bad obstetric history associated with the secondary infertility. However, the presence of the variant and the obstetric complications may be unrelated.
Subject(s)
Adult , Female , Hemoglobins, Abnormal/complications , Hemoglobins, Abnormal/diagnosis , Hemoglobins, Abnormal/epidemiology , Hemoglobins, Abnormal/genetics , India/epidemiology , Infertility, Female/etiology , alpha-Globins/geneticsABSTRACT
Zinc protoporphyrin (ZPP) in the red cells is an indicator of iron status in the bone marrow (BM) and can be easily measured by Protofluor-Z Hematofluorometer from Helena Laboratories. It is well known that bone marrow iron is a gold standard for the diagnosis of iron deficiency anemia (IDA) even in the pre-latent phase. Hence, it was considered pertinent to evaluate the diagnostic utility of ZPP in comparison with bone marrow iron stores. 107 random BM were selected over a period of 2(1/2) years; in each case, RBC indices where recorded along with ZPP and Perls' Prussian blue reaction for BM iron stores. The specificity and sensitivity were found to be 77.8% and sensitivity 69.8%, respectively. However, the sensitivity increased up to 96.2% when Hb, RBC indices and ZPP were considered for the diagnosis of IDA.
Subject(s)
Anemia, Iron-Deficiency/diagnosis , Bone Marrow/chemistry , Humans , Iron/analysis , Protoporphyrins/blood , Sensitivity and SpecificityABSTRACT
Primary sea-blue histiocytosis is a rare syndrome. Secondary or acquired sea-blue histiocytosis occurs in a wide array of hematologic and systemic disorders, rarely these cells have been found in cases of thalassemia. A case of sea-blue histiocytosis in a patient of thalassemia is being reported for its rarity.
Subject(s)
Biopsy, Needle , Bone Marrow/pathology , Child , Female , Humans , Sea-Blue Histiocyte Syndrome/diagnosis , beta-Thalassemia/complicationsABSTRACT
Fine needle aspiration cytology (FNAC) and fine needle non-aspiration cytology (FNNAC) techniques were studied in 145 cases of breast masses. All the needle-sampling procedures were done by single operator. The samples were assessed cytologically and evaluated using five parameters i.e. background blood or clot, amount of cellular material, degree of cellular degeneration, degree of cellular trauma and retention of appropriate architecture. Differences between all the individual parameters as observed in FNAC and FNNAC smears were insignificant. After evaluation of FNNAC and FNAC on the basis of these scores, greater number of diagnostically superior samples were obtained by FNNAC; however by FNAC more number of diagnostically adequate smears were observed. This difference was statistically significant. The number of unsuitable smears were also more by FNNAC technique.