scholarly journals Hemoglobin C Disease

Blood ◽  
1955 ◽  
Vol 10 (3) ◽  
pp. 235-246 ◽  
Author(s):  
WILSON H. HARTZ ◽  
STEVEN O. SCHWARTZ

Abstract 1. The cases of four Negro patients with splenomegaly and targeting of the red cells are reported. 2. Electrophoretic analysis of the hemoglobin in these cases revealed type C hemoglobin exclusively. 3. An analysis of the genetic, clinical, and hematologic manifestations was made. 4. For convenience, the name hemoglobin C disease has been given to the mild hemolytic syndrome observed in these patients. 5. Electrophoretic recognition of hemoglobin C by filter paper and Tiselius technics is illustrated. 6. Differential diagnosis is discussed with special attention directed to the mild form of Mediterranean anemia.

2019 ◽  
Vol 97 (6) ◽  
pp. 355-357
Author(s):  
Ignacio León-Asuero-Moreno ◽  
María Cinta Calvo-Morón ◽  
Francisco Javier Garcia-Gomez ◽  
Gertrudis Sabatel-Hernández ◽  
Juan Castro-Montaño

1966 ◽  
Vol 52 (5) ◽  
pp. 357-374
Author(s):  
Giovanni Dragoni ◽  
Faustino Boioli ◽  
Luigi Roncoroni

Considerations on the value of scintillation scanning of the spleen, using Cr51 and BMHP-Hg197 labelled red cells, in neoplastic diseases and particularly in malignant lymphomas are reported. The examination was performed in 45 patients and was found useful for the demonstration of changes in spleen size and morphology and for differential diagnosis with abdominal masses. Splenomegalies were studied also through the index of splenic surface. It was also possible the demonstration of « cold areas », corresponding to intrasplenic alterations, as neoplastic infiltration.


1977 ◽  
Vol 25 (7) ◽  
pp. 614-632 ◽  
Author(s):  
J W Bacus ◽  
J H Weens

A method of automated red cell analysis suitable for the rapid classification of large numbers of red cells from individual blood specimens has been developed, and preliminarily tested on normal bloods and clinically proven cases of anemias and red cell disorders. According to this method digital image processing techniques provide several features relating to shape and internal central pallor configurations of red cells. These features are used with a fully automated decision logic to rapidly provide a quantitative "red cell differential" analysis, a report of the percentage subpopulations of recognized categories of red cells. For each subpopulation, measurements of mean cell area, mean cell hemoglobin content and mean cell hemoglobin density are provided. The nine types of red cell disorders studied with this method were: (a) iron deficiency anemia, (b) the anemia of chronic disease, (c) beta-thalassemia trait, (d) sickle cell anemia, (e) hemoglobin C disease, (f) intravascular hemolysis, (g) hereditary elliptocytosis, (h) hereditary spherocytosis, and (i) megaloblastic anemia due to folic acid deficiency. Preliminary indications are that the red cell differential is useful in distinguishing between these conditions.


1970 ◽  
Vol 48 (6) ◽  
pp. 433-437 ◽  
Author(s):  
R. P. Rand ◽  
S. Charache

Red cells containing hemoglobin C have been shown to behave as if they are more rigid than normal cells that contain hemoglobin A. Under some conditions the former cells contain inclusions that appear to be crystalline. This study shows, by X-ray scattering and diffraction, that the inclusions are crystalline. Inclusions are not seen when cells are studied in isotonic plasma; under these conditions no difference in intermolecular order could be detected between the two types of erythrocyte. X-ray scattering bands centered on 32 Å, 19 Å, and 13 Å, for both CHb and AHb solutions and cells, result from intramolecular order rather than intermolecular order.


Blood ◽  
2003 ◽  
Vol 101 (8) ◽  
pp. 3309-3315 ◽  
Author(s):  
Rick M. Fairhurst ◽  
Hisashi Fujioka ◽  
Karen Hayton ◽  
Kathleen F. Collins ◽  
Thomas E. Wellems

Abstract Although selection of hemoglobin C (HbC) by malaria has been speculated for decades, only recently have epidemiologic studies provided support for HbC protection against malaria in West Africa. A reduced risk of malaria associated with the homozygous CC state has been attributed to the inability of CC cells to support parasite multiplication in vitro. However, there have been conflicting data and conclusions regarding the ability of CC red cells to support parasite replication. Reports that parasites cannot multiply in CC cells in vitro contrast with detection of substantial parasite densities in CC patients with malaria. We have therefore investigated Plasmodium falciparum growth in CC cells in vitro. Our data show that the multiplication rate of several P falciparum lines is measurable in CC cells, but lower than that in AA (HbA-normal) cells. A high proportion of ring forms and trophozoites disintegrates within a subset of CC cells, an observation that accounts for the overall lower replication rate. In addition, knobs present on the surface of infected CC cells are fewer in number and morphologically aberrant when compared with those on AA cells. Events in malaria pathogenesis that involve remodeling of the erythrocyte surface and the display of parasite antigens may be affected by these knob abnormalities. Our data suggest that only a subset of CC cells supports normal parasite replication and that components of malaria protection associated with the CC state may affect the parasite's replication capacity and involve aberrant knob formation on CC cells.


2015 ◽  
Vol 23 (2) ◽  
pp. 113-123 ◽  
Author(s):  
Athanasios Covanis

Summary Introduction. Eyelid myoclonia and absences (ELMA) was first described by Jeavons in 1977 as a separate type of photosensitive epilepsy. Aim and method. The aim is to consider the updated electro-clinical pathophysiology and to discuss terminology, classification and differential diagnosis. The review includes our own research and relevant papers on the subject of Jeavons syndrome (JS). Review and differential diagnosis. Definition: Jeavons syndrome is a generalized idiopathic (genetic) epilepsy syndrome (IGE) characterized by eyelid myoclonia, other seizures (absences, myoclonic and or generalized tonic-clonic) and EEG paroxysms induced by voluntary or on command eye closure, in the light and photosensitivity. Demographical data: The prevalence of JS has been reported to vary from 7.3% to 12.9% among idiopathic generalized epilepsies and 2.5% to 2.7% among all patients with epileptic disorders. Etiology: JS, as is the case for all idiopathic generalized epilepsies, is genetic and the familial preponderance and concordance is high. Pathophysiology: Three factors are important in order for JS to manifest clinically; the genetic predisposition, the voluntary or on command eye closure and the light input. Clinical forms of JS: we have identified four forms of JS; early onset (< 4 years), mild form, classical form and an ELMA-JME form. Diagnosis: the diagnosis of JS is based on the history, clinical observation and provocation and the confirmation with an EEG. Differential diagnosis: is easily made from tics, other idiopathic generalized or focal cryptogenic/symptomatic epilepsies. Conclusion. JS is characterized by unique electro-clinical features evoked by voluntary or on command eye closure in the light and photosensitivity.


2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Juan Wang ◽  
Hong Ai ◽  
Long Guo ◽  
Lifang Tan ◽  
Huilin Gong ◽  
...  

To evaluate diagnostic performance of real-time tissue elastography (RTE) with a low frequency convex array probe for distinguishing benign from malignant hepatic tumors through trans-abdominal examination, elasticity images of 210 liver tumors were obtained by EUB-7500 (Hitachi Medical Systems and 3.5 MHz probe) and eventually 121 liver tumors were analyzed in the study. Elasticity images were classified into four types, from type a to d. Regarding type a or b as benign tumors and type c or d as malignant ones, sensitivity, specificity, and accuracy were calculated and the consistency between the findings of RTE and the pathohistological diagnosis was evaluated. The sensitivity, specificity, and accuracy were separately 97.2%, 88.0%, and 93.4% (P<0.001). Moreover, there was a good consistency between the findings of RTE and the pathological diagnosis (kappa value 0.86). Among elasticity images of all the malignant tumors, the hepatocellular carcinomas (HCCs) mainly appeared in type c, and liver metastatic cancers in type d. Thus, RTE utilized as a novel noninvasive imaging examination method enables us to distinguish benign from malignant liver tumors. Moreover, it provides certain information for the differential diagnosis between HCCs and liver metastatic cancers.


1986 ◽  
Vol 32 (5) ◽  
pp. 860-862 ◽  
Author(s):  
J S Krauss ◽  
P A Drew ◽  
M H Jonah ◽  
M Trinh ◽  
S Shell ◽  
...  

Abstract Using both densitometry and anion-exchange microchromatography, we measured hemoglobin C (Hb C) and Hb A2 proportions in 11 patients, eight of whom had Hb AC, two Hb SC, and one Hb CC. For one patient with Hb SC, we made the determinations before and after a transfusion. The mean (and SD) for the sum of Hb C + Hb A2 by densitometry and anion-exchange microchromatography for the nine patients with Hb AC and Hb CC were 45 (18) and 40 (18)%, respectively (p greater than 0.1, r = 0.98); for the three determinations involving the two Hb SC patients, the respective proportions were 40 (9.9) and 38 (6.6)% (r = 0.88). Electrophoretic analysis of microchromatographic eluates from the Hb AC and Hb CC patients showed that 6% of the absorbance of the late high-ionic-strength eluate was due to Hb C, which was responsible for the statistically insignificant difference between densitometric and chromatographic values for Hb C + A2 values. Electrophoresis on cellulose acetate of concentrated eluates of the Hb C + A2 fraction from the two Hb SC patients revealed no contamination by Hb S. Evidently, microchromatography can be used to determine Hb C + A2 in patients with Hb C or Hb SC disease or Hb C trait.


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