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At least 127 records · Page 7Linked to original sources
PubMed1982

Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.

A new electrophoretically silent hemoglobin variant is described that produces the classical phenotype of beta thalassemic intermedia in association with beta thalassemia trait. This variant has the expression of a silent beta thalassemia trait. The abnormal hemoglobin was detected by acid-urea-Triton-acrylamide electrophoresis and further demonstrated by isoelectric focusing. The amount of the variant in carrier is approximately 30% of the total hemoglobin. No instability was found. Absence of hemoglobin A in the propositus blood facilitated structural studies. Peptides maps were normal but analysis of individual peptide spots showed an Ala leads to Ser substitution in the beta T3. This variant has been previously called Hb Knossos (beta 27 (B9) Ala leads to Ser).

Amino Acids↗
PubMed1980

Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing.

Hemoglobin variants can be successfully identified in cord blood samples. The methods most commonly used include cellulose acetate (CAC) and citrate agar (CAG) electrophoresis. Recently thin layer isoelectric focusing (TLIF) has been shown to be an excellent method for identifying hemoglobin variants. To determine the applicability of TLIF for cord blood screening, we compared the results of 835 samples obtained by TLIF with that obtained by CAC, CAG, and the combination of both CAC and CAG. In 100 of these samples we detected an abnormal hemoglobin pattern using TLIF. In contrast, we detected only 80 abnormal samples by CAC, 70 by CAG, and 80 by using the combination of CAC and CAG. Due to the increased resolution provided by TLIF, we correctly diagnosed two sickle cell trait samples by TLIF that were incorrectly suspected to be homozygous for sickle cell disease by CAC and CAG. We identified 41 samples containing Bart's hemoglobin by TLIF in contrast to only 21 using CAC and 14 using CAG. The time and cost of TLIF was comparable to that using the combination of both methods. We, therefore, conclude that TLIF is the method of choice for cord blood screening.

Anemia, Sickle Cell↗
PubMed1979

Retinopathy in ophthalmologically asymptomatic patients with abnormal hemoglobins.

A study of 70 ophthalmologically asymptomatic patients with abnormal hemoglobinopathy (AS, SS, S Thal) is presented. A significant number of SS and S Thal group patients had visual acuity of less than 20/20. Retinal vein dilation and tortuosity was observed in 54% of S Thal and 83% of SS patients. Early stages of proliferative retinopathy were encountered in 7% of SS and S Thal patients in the study. The importance of routine ocular examination including meticulous binocular indirect ophthalmoscopy with scleral depression in asymptomatic patients with abnormal hemoglobin is stressed.

Adolescent↗
PubMed1982

Genetic hemoglobin abnormalities in 2363 Cuban newborns.

A total of 2363 Cuban newborns were screened for genetic hemoglobin abnormalities; 2187 (92.56%) had a normal electrophoretic pattern. Of the 176 samples with abnormal electrophoretic patterns, 102 (4.32%) had hemoglobins A, F plus Bart's; 54 (2.29%) had hemoglobins A, F and S; 3 (0.13%) had hemoglobins A, F, S plus Bart's; 14 (0.59%) had hemoglobins A, F and C; 1 (0.04%) had hemoglobins A, F, C and Bart's. The frequency of Hb Bart's was 4.46% in AA phenotype, 5.25% in AS, and 6.67% in AC. Two newborns were found to have rare variants. A close correlation was found between the observed and expected phenotypes, which indicates the accuracy of the diagnostic methods used. The results of all hemoglobin abnormalities were entered on the infants' hospital records. In addition, these families received genetic counseling.

Adult↗