Unbalanced globin chain synthesis in congenital dyserythropoietic anemia.

نویسندگان

  • M A Hruby
  • R G Mason
  • G R Honig
چکیده

Hematologic evaluation of a 5-yr-old girl from the child and from both of her parents with lifelong anemia demonstrated the an abnormal balance between the synthecharacteristic findings of congenital dyssis of the a and non-a globin components erythropoietic anemia (CDA) type II. of hemoglobin was observed, the a chains Globin chain synthesis was studied in vitro being synthesized in excess. Neither by measuring the incorporation of L-Ieuparent demonstrated microcytosis, hypocine-14C into globin by peripheral blood chromia, or other findings suggestive of and bone marrow erythroid cells. In cells I3-thalassemia trait.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Synthesis of globin chains in sickle -thalassemia.

In five patients with sickle beta-thalassemia there was balanced alpha- and beta-globin synthesis in the bone marrow and decreased total beta-chain synthesis relative to that of alpha-chain in the peripheral blood. These findings are similar to those in patients with simple beta-thalassemia trait. Despite a range of hemoglobin concentrations from 6.8 to 12.5 g/100 ml in the patients with sickle...

متن کامل

Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.

Congenital dyserythropoietic anemia (CDA) type I is a rare macrocytic anemia of unknown etiology. In the present study, we redefined the clinical and laboratory picture of CDA type I, some of its pathogenic aspects, and the association with thalassemia-like features in 20 patients, all of whom belong to one Bedouin tribal group and are probably descended from a common ancestor. In each case ult...

متن کامل

Globin Chain Synthesis in HbD ( Punjab ) - 6 - Tha 1 assemia

A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygousforHbD(Punjab) fi12 glu -‘ gIn and fi-thalassemia. HbA was not detected upon electrophoresis of the subject’s hemolysate, and no synthesis of fiA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-Ieucine. The thalassemia gene was thus of the fi variety. The fiD/a synthesis ra...

متن کامل

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown t...

متن کامل

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. The phenotype of severe nonspherocytic hemolytic anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that prese...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Blood

دوره 42 6  شماره 

صفحات  -

تاریخ انتشار 1973