J Med Cases

Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc

Journal website http://www.journalmc.org

Case Report

Volume 11, Number 4, April 2020, pages 90-93

Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family

Figure

Figure 1. Profile of MLPA probemix P140 HBA cluster of the proband carrying a multiplication of HBA genes. The triangles represent the probe ratio of about 2 corresponding to alpha genes quadruplication; the dots represent the probe ratios of about 1.5 corresponding to alpha genes triplication, while the squares correspond to overlapping probes. MLPA: multiplex ligation-dependent probe amplification.

Table

**Table 1.** Comparison Between Proband’s and Relatives’ Hematological and HPLC Data
	Proband	Mother	Father	Brother	Partner
HPLC: high-performance liquid chromatography; RBC: red blood cell; Hb: hemoglobin; HCT: hematocrit; MCV: mean corpuscular volume; MCH: mean corpuscular hemoglobin; MCHC: mean corpuscular hemoglobin concentration; RDW: red blood cells distribution width; LDH: lactate dehydrogenase; n.d.: no data.
RBC	3.44 × 10¹²/L	5.90 × 10¹²/L	4.53 × 10^12/L	5.77 × 10¹²/L	4.68 × 10^12/L
Hb	7.2 g/dL	11.3 g/dL	13.9 g/dL	12.2 g/dL	15.7 g/dL
HCT	24.1%	36.5%	39.6%	38.8%	n.d.
MCV	70.1 fL	61.9 fL	87.4 fL	67.2 fL	87.7 fL
MCH	20.9 pg	19.2 pg	30.7 pg	21.1 pg	n.d.
MCHC	29.9 g/dL	31.0 g/dL	35.1 g/dL	31.4 g/dL	n.d.
RDW	24.9%	19.5%	12.0%	16.9%	n.d.
Reticulocytes	0.205 × 10⁶/L	0.158 × 10¹²/L	0.087 × 10¹²/L	0.144 × 10¹²/L	n.d.
Bilirubin total	1.52 mg/dL	1.12 mg/dL	1.09 mg/dL	1.60 mg/dL	n.d.
LDH	450 U/L	205 U/L	187 U/L	160 U/L	n.d.
Haptoglobin	n.d.	32 mg/dL	118 mg/dL	67 mg/dL	n.d.
Iron	416 µg/dL	125 µg/dL	91 µg/dL	164 µg/dL	n.d.
Ferritin	326 µg/L	604 µg/L	165 µg/L	269 µg/L	n.d.
Transferrin	347 mg/dL	238 mg/dL	248 mg/dL	261 mg/dL	n.d.
HBA2	4.9 %	4.5%	2.7%	4.8%	2.3%
HbF	3.8%	1.3%	0.9%	0.9%	0.9%
HbX	n.d.	n.d.	n.d.	n.d.	n.d.