β Thalassemia Associated with Increased HB F Production. Evidence for the Existence of a Heterocellular Hereditary Persistence of Fetal Hemoglobin (Hpfh) Determinant Linked to β Thalassemia in a Southern Italian Population

Hemoglobin ◽  
1981 ◽  
Vol 5 (1) ◽  
pp. 1-17 ◽  
Author(s):  
M. Marinucci ◽  
F. Mavilio ◽  
A. Giuliani ◽  
M. Gabbianelli ◽  
L. Tentori ◽  
...  
Keyword(s):  
Fetal Hemoglobin ◽  
Italian Population ◽  
Hereditary Persistence

scholarly journals Italian type of deletional hereditary persistence of fetal hemoglobin

Blood ◽  
1986 ◽  
Vol 68 (3) ◽  
pp. 646-651 ◽  
Author(s):  
G Saglio ◽  
C Camaschella ◽  
A Serra ◽  
T Bertero ◽  
G Rege Cambrin ◽  
...  
Keyword(s):  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Type I ◽  
Italian Population ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Gamma Globin ◽  
New Type ◽  
Hereditary Persistence ◽  
Chain Synthesis

Abstract We report a new type of deletion of the beta globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. This deletion begins approximately 5 kilobases (kb) 5′ to the delta globin gene and ends approximately 30 kb 3′ to the beta globin gene, in close proximity to the 3′ end of an Indian HPFH. In all four previously described HPFH, a repetitive Alu I region 5′ to the delta globin gene is largely or completely deleted; the 5′ end of the new HPFH is consistent with this common feature. In addition, the finding that Italian and Indian HPFHs, as reported for other groups of deletions, have very close 3′ ends, strengthens the idea that common mechanisms may operate in generating these deletions. Finally, we show that, in spite of similar 5′ breakpoints, the deletion of Spanish delta beta degrees-thalassemia is at least 8 kb longer than that of Negro HPFH type I, thus ruling out the hypothesis that the overall extent of the deletion might influence the level of gamma globin chain synthesis.

scholarly journals Italian type of deletional hereditary persistence of fetal hemoglobin

Blood ◽  
1986 ◽  
Vol 68 (3) ◽  
pp. 646-651
Author(s):  
G Saglio ◽  
C Camaschella ◽  
A Serra ◽  
T Bertero ◽  
G Rege Cambrin ◽  
...  
Keyword(s):  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Type I ◽  
Italian Population ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Gamma Globin ◽  
New Type ◽  
Hereditary Persistence ◽  
Chain Synthesis

We report a new type of deletion of the beta globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. This deletion begins approximately 5 kilobases (kb) 5′ to the delta globin gene and ends approximately 30 kb 3′ to the beta globin gene, in close proximity to the 3′ end of an Indian HPFH. In all four previously described HPFH, a repetitive Alu I region 5′ to the delta globin gene is largely or completely deleted; the 5′ end of the new HPFH is consistent with this common feature. In addition, the finding that Italian and Indian HPFHs, as reported for other groups of deletions, have very close 3′ ends, strengthens the idea that common mechanisms may operate in generating these deletions. Finally, we show that, in spite of similar 5′ breakpoints, the deletion of Spanish delta beta degrees-thalassemia is at least 8 kb longer than that of Negro HPFH type I, thus ruling out the hypothesis that the overall extent of the deletion might influence the level of gamma globin chain synthesis.

scholarly journals CORRESPONDENCE

Blood ◽  
1963 ◽  
Vol 22 (4) ◽  
pp. 506-506
Keyword(s):  
Fetal Hemoglobin ◽  
Adequate Explanation ◽  
Hand Column ◽  
Right Hand ◽  
On Line ◽  
Hereditary Persistence ◽  
The Right

Abstract A portion of Dr. C. Lockard Conley’s letter in the August issue of BLOOD appeared garbled due to omission of some type. On page 235, the sentence beginning on line 22 of the right-hand column, and the following sentence, should have read as follows: A similar mechanism may be involved in hereditary persistence of fetal hemoglobin. An overlapping deletion involving contiguous loci provides a simple and adequate explanation for the occurrence of this anomaly.

scholarly journals The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases

Blood ◽  
1987 ◽  
Vol 70 (6) ◽  
pp. 1797-1803
Author(s):  
FS Collins ◽  
JL Cole ◽  
WK Lockwood ◽  
MC Iannuzzi
Keyword(s):  
Large Scale ◽  
Fetal Hemoglobin ◽  
Pulsed Field Gel Electrophoresis ◽  
Beta Thalassemia ◽  
Common Mechanism ◽  
Beta Globin ◽  
Gamma Delta ◽  
Large Deletions ◽  
Hereditary Persistence ◽  
American Blacks

The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a large-scale restriction map of the beta-globin cluster in normal and HPFH DNA. The deletions in HPFH-1, which occurs in American blacks, and in HPFH-2, which occurs in Ghanaian blacks, are found to be approximately 105 kilobases (kb) in length, though the endpoints are staggered by approximately 5 kb. The fact that two previously reported gamma delta beta-thalassemia deletions to the 5′ side of the beta-globin cluster are also about 100 kb suggests a common mechanism, possibly involving the loss of a complete chromatin loop.

scholarly journals Hereditary persistence of fetal hemoglobin or (delta beta)o- thalassemia: three types observed in South-Chinese families

Blood ◽  
1985 ◽  
Vol 66 (6) ◽  
pp. 1430-1435
Author(s):  
YT Zeng ◽  
SZ Huang ◽  
B Chen ◽  
YC Liang ◽  
ZM Chang ◽  
...  
Keyword(s):  
Gene Mapping ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Restriction Enzymes ◽  
Large Deletion ◽  
Gamma Delta ◽  
Chinese Families ◽  
Gamma Globin ◽  
Hereditary Persistence ◽  
Fetal Hemoglobin Level

Hematological and hemoglobin composition data, and results from extensive gene mapping, using a battery of restriction enzymes and probes, have been used to distinguish different types of hereditary persistence of fetal hemoglobin (HPFH) (or delta beta-thal) among three Chinese families from the southern part of China. The first (Family Z) is an A gamma-(delta beta)+-HPFH without a detectable deletion and may be the same as, or similar to, that described by Farquhar et al (Am J Hum Genet 35:611, 1983). The second (Family C) resembles a G gamma(A gamma delta beta)o-thalassemia and is characterized by a large deletion of DNA originating 3′ to the G gamma globin gene and extending beyond sequences recognized by the pRK28 probe. Data from various digests indicate possible differences in the 3c′ end of the deletion when compared with data for some other types of G gamma(A gamma delta beta)o- thalassemia, described by Trent et al (Br J Haematol 57:279, 1984). The third (Family Zh) concerns a G gamma A gamma(delta beta)+-HPFH, which is characterized in heterozygotes by a fetal hemoglobin level of 20% to 25% with a G gamma value averaging 60% and by the absence of any DNA deletion detectable by extensive gene mapping analyses. The C----G mutation at position 202 5c′ to the G gamma globin gene [characteristic for the high G gamma-(delta beta)+-HPFH (Proc Natl Acad Sci USA 81:4894, 1984; Blood 64:1292, 1984)] was absent, but the Xmn I site at position 158 5c′ to the G gamma globin gene [characteristic for a modest increase in G gamma values and thus and increased G gamma to A gamma ratio (Blood)] was present. No indication has yet been obtained explaining the elevation in both G gamma and A gamma chains; haplotyping showed that the chromosome carrying this G gamma A gamma(delta beta)+ determinant is unusual among the Chinese population.

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