1/13. An unusual case of hemoglobin Bart's hydrops fetalis.A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis. That this is a particular expression of hemoglobin h disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.- - - - - - - - - - ranking = 1keywords = hydrops (Clic here for more details about this article) |
2/13. alpha-thalassemia: prenatal diagnosis and neonatal implications.Homozygous alpha-thalassemia major, or Bart's hemoglobinopathy, is the most common etiology of nonimmune hydrops in those of Oriental descent. The prenatal diagnosis can now be made utilizing dna hybridization technique from fetal cells obtained by either amniocentesis or chorionic villus sampling. A case is reviewed documenting the utilization of dna studies in managing patients known or suspected to have a history of alpha-thalassemia major.- - - - - - - - - - ranking = 0.16666666666667keywords = hydrops (Clic here for more details about this article) |
3/13. hydrops fetalis due to homozygosity for alpha-thalassemia-1, -(alpha)-20.5 kb: the first observation in a Turkish family.We report data on a fetus with hydrops fetalis due to a homozygosity for alpha-thalassemia-1, type -(alpha)-20.5 kb; this is the first reported case in a Turkish family. Characterization of the abnormality was based on data from family studies and from alpha-globin gene mapping of the dna from the parents.- - - - - - - - - - ranking = 0.16666666666667keywords = hydrops (Clic here for more details about this article) |
4/13. Restriction fragment length polymorphism in the interzeta hypervariable region for prenatal diagnosis of non-deletion alpha thalassemia.A Bam HI restriction fragment length polymorphism in the interzeta hypervariable region (IZ HVR) of the zeta-alpha gene cluster was used for the prenatal diagnosis of a pregnancy at risk for Hb H hydrops fetalis. The parents had zeta-alpha thalassemia 1 and non-deletion alpha thalassemia, respectively, and a previous hydrops was missed using the conventional method of gene detection. In this prenatal diagnosis, linkage to IZ HVR was used to exclude non-deletion alpha thalassemia, and the numbers of zeta and alpha genes in the fetus were quantitated to predict the exact genotype. Confirmation was made by analysis of cord blood at delivery.- - - - - - - - - - ranking = 0.33333333333333keywords = hydrops (Clic here for more details about this article) |
5/13. hydrops fetalis due to an unusual form of Hb H disease.The occurrence of Hb H hydrops fetalis is reported for the first time. The mother has zeta-alpha thalassemia 1 (zeta zeta alpha alpha/ ) and the father has non-deletion alpha thalassemia [zeta zeta alpha alpha/zeta zeta (alpha alpha)T]. The complete deletion of the zeta alpha cluster on one chromosome was confirmed by quantitation of alpha and zeta gene numbers, the normal alpha and zeta gene patterns arising from the remaining normal chromosome, and the decreased alpha/beta globin chain ratio of 0.57. The non-deletion alpha thalassemia defect could only be identified by the imbalanced alpha/beta globin chain ratio of 0.65 in the presence of normal gene numbers and patterns. The newborn was markedly anemic, unlike those with classical Hb H disease, because the non-deletion alpha thalassemia defect is more severe than alpha thalassemia 2. The decreased zeta genes during fetal life might have additional deleterious effects. In this family, the distinct BamHI restriction fragment length polymorphism in the hypervariable region of the zeta genes may be used for future prenatal diagnosis.- - - - - - - - - - ranking = 0.16666666666667keywords = hydrops (Clic here for more details about this article) |
6/13. Alpha thalassemia British type (alpha alpha/--Brit) in an Australian family.Alpha thalassemia is rarely diagnosed in Australian families of British or Northern European ancestry. In 1972, a third generation Australian was shown to have alpha thalassemia. In the absence of known Mediterranean or South East Asian ancestry it was reported as being the first example of alpha thalassemia in an Australian family. Further study of the proposita in 1985 using dna mapping of the alpha globin gene complex, shows a distinctive molecular defect identical to the British type of alpha thalassemia. The latter is clearly different from the commonly encountered Mediterranean and South East Asian alpha zero haplotypes. Recognition that alpha zero thalassemia occurs in Australians is important since it may produce a microcytic hypochromic anemia. Its inheritance together with other forms of alpha thalassemia may lead to severe Hb H disease or Hb Bart's hydrops fetalis.- - - - - - - - - - ranking = 0.16666666666667keywords = hydrops (Clic here for more details about this article) |
7/13. Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassaemia.An unusual case of Bart's hydrops fetalis is reported where the patient was born to parents of Greek origin. An exchange transfusion was given. adult haemoglobin (HbA) was present in addition to HbBart's and HbPortland. A low level of synthesis of alpha-chains was evident. The mother presented again in a subsequent pregnancy for prenatal diagnosis of thalassaemia. The fetus was diagnosed as an alpha-thalassaemia carrier, a diagnosis which was confirmed at birth. The nature of alpha-thalassaemia in the family is discussed.- - - - - - - - - - ranking = 0.83333333333333keywords = hydrops (Clic here for more details about this article) |
8/13. Theca-lutein ovarian cysts associated with homozygous alpha-thalassemia.We present a case of theca-lutein cysts associated with homozygous alpha-thalassemia. Theca-lutein cysts have been associated with various types of nonimmune hydrops fetalis but have not been reported previously in association with homozygous alpha-thalassemia.- - - - - - - - - - ranking = 0.16666666666667keywords = hydrops (Clic here for more details about this article) |
9/13. Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.Nonimmune hydrops fetalis may be associated with an elevated amniotic fluid delta OD450. Cases of I-cell disease (mucolipidosis II), lethal multiple pterygium syndrome, and alpha-thalassemia are presented, each associated with nonimmune hydrops fetalis and an elevated delta OD450. An elevated delta OD450 does not always indicate isoimmunization, and may be due to increased red blood cell turnover for a variety of reasons associated with nonimmune hydrops fetalis.- - - - - - - - - - ranking = 1.1666666666667keywords = hydrops (Clic here for more details about this article) |
10/13. Hemoglobin barts hydrops fetalis syndrome.A 25 year old Vietnamese-Canadian pregnant woman was referred to our regional perinatal center at 31 weeks gestation after a routine ultrasound examination showing fetal ascites. A diagnosis of non-immune hydrops fetalis was made, and a Caesarean section was performed two days after hospital admission. An infant with Hb Barts hydrops fetalis was delivered who expired one hour after birth. alpha-Globin gene mapping of fetal dna confirmed the diagnosis of homozygous alpha-thalassemia with deletion of all four alpha-globin genes. Both parents were shown to have alpha-thalassemia trait with deletion of both alpha-globin genes on one chromosome. This report further illustrates the need for a simple screening test for couples at risk of giving birth to infants with homozygous alpha-thalassemia. The availability of such a test would facilitate genetic counselling and prenatal diagnosis, thereby improving the quality of obstetrical care provided to these women at risk.- - - - - - - - - - ranking = 1keywords = hydrops (Clic here for more details about this article) |
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