A very rare patient with
states for HbH disease and congenital heart disease
Yongzhong Zhao,1 Lixin Qu,2 Xiangmin
Xu1
1Department of Cell Biology & Medical Genetics, First
Military Medical University, Guangzou, 510515, P.R.China;
2Department of Thoracic Surgery, Affiliated Nangfang
Hospital, First Medical University, Guangzhou, 510515, P.R.China
Correspondence: Professor, Xiangmin Xu, Department of Cell Biology
& Medical Genetics, First Military Medical University,
Guangzhou 510515, P.R.China. Tel: 86-20-85148293; Fax:
86-20-87644466. E-mail: gzxuxm@public.guangzhou.gd.cn
Abstract
We report an HbH disease patient with interventrical septum defect. DNA analysis showed that the patient had Hb Constant Spring mutation and -&endash;SEA deletion. This case illustrates typically associated clinical features of HbH disease combined with congenital heart disease.
Text
Hemoglobin H (HbH) disease, the
most complicated genetic form of a-thalassemia, is not uncommonly
seen in south China and South East Asia, 1 and
congenital heart disease (CHD) is one of worldwide congenital
anomalies with the genetic cause of each specific lesion
heterogeneous.2 However, the clinical features of HbH
disease combined with CHD are poorly discussed. Here we report
such a case.
The proband, an 8-year-old boy with normal growth but slight
cyanosis from a Chinese family in Xinxing county of Guangdong
Province of south China, was in hospital for septum repair because
he had been diagnosed as interventrical septum defect at birth.
Physical examination showed the boy's heart rate was 110/min, with
enlarged heart and precordial region tremor. Hematological data
were obtained with a cell counter (Model Cell-DYN-3500, ADBOTP,
USA) and hemoglobin electrophoresis with REP system (Helena
Laboratory, Beaumont, USA). Red cell indices and hemoglobin
electrophoresis data were as following: Hb 83.1g/L, HCT 0.273, MCV
72.8fl, MCH 22.1pg, MCHC 304g/L, RDW 27.5%, HbA2 3.9%,HbA 73.5%,
HbF 1.7%, and HbH 20.9%. Methods of DNA analysis to determine the
a globin gene defects were GAP-PCR and PCR-reverse dot
blot.3,4 Analysis result illustrated that, the
genotypes of the proband, his father and mother were aCSa/--SEA ,
aa/--SEA and aCSa/aa, respectively. b-thalassemia mutants were
typed by PCR-reverse dot blot method as described
somewhere.5 The proband and his parents were excluded
18 types of b-thalassemia seen in south China. X-ray and Color
Doppler Ultrasound showed that the proband was affected
interventricular septum, aortic valve lower diaphram, right
ventrical outflow tract stenosis, regurgitation of pulmonary
valve, aortic valve, and tricuspid valve. ECG indicated that the
proband had dystrophy of two ventrical and arrhythmia.
B-Ultrasound imaging displayed that moderate hepatomegaly and
spenomegaly existed in the proband. Thus, the diagnosis outcome
for this patient should have been the complex states for HbH
disease and congenital heart disease. The defect of the
interventrical septum was repaired and about 300 mL whole blood
was transfused during and after operation. Stable physical
condition was observed and the boy was left the hospital
safely.
Malformation of a-thalassemia patients, especially in homozygous
a0-thalssemia ones, have been reported in a few cases, and bone
marrow transplantation in b-thalassemia individuals with
congenital heart disease was intensively studied.6,7 It
is unclear whether these combinations are random event or not.
Heart care is important in common HbH disease and qualitative and
quantitative magnetic resonance imaging is useful for screening
the complication of heart failure in HbH disease because of iron
overload.1,8 In this case, the syndrome and symptom
were enhanced due to combined effect and follow-up care is
necessary for this kind of patient after operation.
